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UniProtKB - P04637 (P53_HUMAN)

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Protein

Cellular tumor antigen p53

Gene

TP53

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression. In cooperation with mitochondrial PPIF is involved in activating oxidative stress-induced necrosis; the function is largely independent of transcription. Induces the transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent transcriptional repression leading to apoptosis and seem to have to effect on cell-cycle regulation. Implicated in Notch signaling cross-over. Prevents CDK7 kinase activity when associated to CAK complex in response to DNA damage, thus stopping cell cycle progression. Isoform 2 enhances the transactivation activity of isoform 1 from some but not all TP53-inducible promoters. Isoform 4 suppresses transactivation activity and impairs growth suppression mediated by isoform 1. Isoform 7 inhibits isoform 1-mediated apoptosis. Regulates the circadian clock by repressing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER2 (PubMed:24051492).12 Publications

Cofactori

Zn2+Note: Binds 1 zinc ion per subunit.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi176Zinc1
Metal bindingi179Zinc1
Metal bindingi238Zinc1
Metal bindingi242Zinc1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi102 – 292Add BLAST191

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • chaperone binding Source: UniProtKB
  • chromatin binding Source: UniProtKB
  • copper ion binding Source: UniProtKB
  • core promoter sequence-specific DNA binding Source: CAFA
  • damaged DNA binding Source: GO_Central
  • disordered domain specific binding Source: CAFA
  • DNA binding Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • histone acetyltransferase binding Source: UniProtKB
  • histone deacetylase binding Source: CAFA
  • identical protein binding Source: CAFA
  • mRNA 3'-UTR binding Source: CAFA
  • p53 binding Source: CAFA
  • protease binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • protein phosphatase 2A binding Source: UniProtKB
  • protein phosphatase binding Source: UniProtKB
  • protein self-association Source: AgBase
  • receptor tyrosine kinase binding Source: BHF-UCL
  • RNA polymerase II regulatory region sequence-specific DNA binding Source: ParkinsonsUK-UCL
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding Source: BHF-UCL
  • transcription factor activity, core RNA polymerase binding Source: CAFA
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB
  • transcription factor binding Source: UniProtKB
  • transcription regulatory region DNA binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: UniProtKB
  • zinc ion binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  • autophagy Source: CAFA
  • base-excision repair Source: UniProtKB
  • cell aging Source: UniProtKB
  • cell cycle arrest Source: BHF-UCL
  • cell differentiation Source: UniProtKB
  • cell proliferation Source: UniProtKB
  • cellular protein localization Source: UniProtKB
  • cellular response to actinomycin D Source: CAFA
  • cellular response to DNA damage stimulus Source: UniProtKB
  • cellular response to drug Source: UniProtKB
  • cellular response to gamma radiation Source: CAFA
  • cellular response to glucose starvation Source: UniProtKB
  • cellular response to hypoxia Source: UniProtKB
  • cellular response to ionizing radiation Source: BHF-UCL
  • cellular response to UV Source: CAFA
  • chromatin assembly Source: UniProtKB
  • circadian behavior Source: UniProtKB
  • determination of adult lifespan Source: BHF-UCL
  • DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
  • DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Source: CAFA
  • DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Source: CAFA
  • DNA strand renaturation Source: UniProtKB
  • entrainment of circadian clock by photoperiod Source: UniProtKB
  • ER overload response Source: MGI
  • intrinsic apoptotic signaling pathway Source: HGNC
  • intrinsic apoptotic signaling pathway by p53 class mediator Source: UniProtKB
  • intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator Source: UniProtKB
  • mitotic G1 DNA damage checkpoint Source: BHF-UCL
  • multicellular organism development Source: UniProtKB
  • negative regulation of apoptotic process Source: UniProtKB
  • negative regulation of cell growth Source: UniProtKB
  • negative regulation of cell proliferation Source: CACAO
  • negative regulation of fibroblast proliferation Source: UniProtKB
  • negative regulation of helicase activity Source: UniProtKB
  • negative regulation of telomerase activity Source: BHF-UCL
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • nucleotide-excision repair Source: UniProtKB
  • oligodendrocyte apoptotic process Source: UniProtKB
  • oxidative stress-induced premature senescence Source: BHF-UCL
  • phosphatidylinositol-mediated signaling Source: Reactome
  • positive regulation of apoptotic process Source: UniProtKB
  • positive regulation of cell cycle arrest Source: CAFA
  • positive regulation of execution phase of apoptosis Source: AgBase
  • positive regulation of gene expression Source: CAFA
  • positive regulation of histone deacetylation Source: GO_Central
  • positive regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
  • positive regulation of neuron apoptotic process Source: GO_Central
  • positive regulation of peptidyl-tyrosine phosphorylation Source: BHF-UCL
  • positive regulation of pri-miRNA transcription from RNA polymerase II promoter Source: BHF-UCL
  • positive regulation of protein export from nucleus Source: Reactome
  • positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway Source: Reactome
  • positive regulation of protein oligomerization Source: UniProtKB
  • positive regulation of reactive oxygen species metabolic process Source: BHF-UCL
  • positive regulation of release of cytochrome c from mitochondria Source: UniProtKB
  • positive regulation of thymocyte apoptotic process Source: BHF-UCL
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress Source: ParkinsonsUK-UCL
  • proteasome-mediated ubiquitin-dependent protein catabolic process Source: Reactome
  • protein complex assembly Source: UniProtKB
  • protein deubiquitination Source: Reactome
  • protein homotetramerization Source: CAFA
  • protein localization Source: UniProtKB
  • protein tetramerization Source: UniProtKB
  • Ras protein signal transduction Source: BHF-UCL
  • regulation of apoptotic process Source: MGI
  • regulation of cell cycle G2/M phase transition Source: Reactome
  • regulation of mitochondrial membrane permeability Source: UniProtKB
  • regulation of signal transduction by p53 class mediator Source: Reactome
  • regulation of transcription, DNA-templated Source: UniProtKB
  • replicative senescence Source: BHF-UCL
  • response to antibiotic Source: UniProtKB
  • response to gamma radiation Source: BHF-UCL
  • response to X-ray Source: GO_Central
  • signal transduction by p53 class mediator Source: CAFA
  • viral process Source: CACAO
Complete GO annotation...

Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processApoptosis, Biological rhythms, Cell cycle, Host-virus interaction, Necrosis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-111448. Activation of NOXA and translocation to mitochondria.
R-HSA-1257604. PIP3 activates AKT signaling.
R-HSA-139915. Activation of PUMA and translocation to mitochondria.
R-HSA-1912408. Pre-NOTCH Transcription and Translation.
R-HSA-2559580. Oxidative Stress Induced Senescence.
R-HSA-2559584. Formation of Senescence-Associated Heterochromatin Foci (SAHF).
R-HSA-2559585. Oncogene Induced Senescence.
R-HSA-2559586. DNA Damage/Telomere Stress Induced Senescence.
R-HSA-3232118. SUMOylation of transcription factors.
R-HSA-349425. Autodegradation of the E3 ubiquitin ligase COP1.
R-HSA-390471. Association of TriC/CCT with target proteins during biosynthesis.
R-HSA-5628897. TP53 Regulates Metabolic Genes.
R-HSA-5689880. Ub-specific processing proteases.
R-HSA-5689896. Ovarian tumor domain proteases.
R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
R-HSA-6785807. Interleukin-4 and 13 signaling.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
R-HSA-6803204. TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
R-HSA-6803205. TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain.
R-HSA-6803207. TP53 Regulates Transcription of Caspase Activators and Caspases.
R-HSA-6803211. TP53 Regulates Transcription of Death Receptors and Ligands.
R-HSA-6804114. TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest.
R-HSA-6804115. TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain.
R-HSA-6804116. TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest.
R-HSA-6804754. Regulation of TP53 Expression.
R-HSA-6804756. Regulation of TP53 Activity through Phosphorylation.
R-HSA-6804757. Regulation of TP53 Degradation.
R-HSA-6804758. Regulation of TP53 Activity through Acetylation.
R-HSA-6804759. Regulation of TP53 Activity through Association with Co-factors.
R-HSA-6804760. Regulation of TP53 Activity through Methylation.
R-HSA-6811555. PI5P Regulates TP53 Acetylation.
R-HSA-69473. G2/M DNA damage checkpoint.
R-HSA-69481. G2/M Checkpoints.
R-HSA-69541. Stabilization of p53.
R-HSA-69895. Transcriptional activation of cell cycle inhibitor p21.
R-HSA-8852276. The role of GTSE1 in G2/M progression after G2 checkpoint.
R-HSA-8941855. RUNX3 regulates CDKN1A transcription.
R-HSA-983231. Factors involved in megakaryocyte development and platelet production.
SignaLinkiP04637.
SIGNORiP04637.

Protein family/group databases

TCDBi1.C.110.1.1. the pore-forming pnc-27 peptide of 32 aas from the p53 tumor suppressor protein (pnc-27) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Cellular tumor antigen p53
Alternative name(s):
Antigen NY-CO-13
Phosphoprotein p53
Tumor suppressor p53
Gene namesi
Name:TP53
Synonyms:P53
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:11998. TP53.

Subcellular locationi

Isoform 1 :
  • Nucleus
  • Cytoplasm

    • Note: Predominantly nuclear but localizes to the cytoplasm when expressed with isoform 4.
Isoform 2 :
  • Nucleus
  • Cytoplasm

    • Note: Localized mainly in the nucleus with minor staining in the cytoplasm.
Isoform 3 :
  • Nucleus
  • Cytoplasm

    • Note: Localized in the nucleus in most cells but found in the cytoplasm in some cells.
Isoform 4 :
  • Nucleus
  • Cytoplasm

    • Note: Predominantly nuclear but translocates to the cytoplasm following cell stress.
Isoform 7 :
  • Nucleus
  • Cytoplasm

    • Note: Localized mainly in the nucleus with minor staining in the cytoplasm.
Isoform 8 :
  • Nucleus
  • Cytoplasm

    • Note: Localized in both nucleus and cytoplasm in most cells. In some cells, forms foci in the nucleus that are different from nucleoli.
Isoform 9 :

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB-SubCell
  • intracellular Source: CAFA
  • mitochondrial matrix Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB
  • nuclear chromatin Source: BHF-UCL
  • nuclear matrix Source: UniProtKB
  • nucleolus Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • PML body Source: UniProtKB
  • protein complex Source: CAFA
  • replication fork Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

TP53 is found in increased amounts in a wide variety of transformed cells. TP53 is frequently mutated or inactivated in about 60% of cancers. TP53 defects are found in Barrett metaplasia a condition in which the normally stratified squamous epithelium of the lower esophagus is replaced by a metaplastic columnar epithelium. The condition develops as a complication in approximately 10% of patients with chronic gastroesophageal reflux disease and predisposes to the development of esophageal adenocarcinoma.
Esophageal cancer (ESCR)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage.
See also OMIM:133239
Li-Fraumeni syndrome (LFS)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers, soft tissue and bone sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15, rhabdomyosarcoma before the age of 5, leukemia, Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.
See also OMIM:151623
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04462182P → L in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs534447939Ensembl.1
Natural variantiVAR_04465097V → I in familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044661105G → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044667106S → R in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005861110R → L in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation. 1 PublicationCorresponds to variant dbSNP:rs11540654Ensembl.1
Natural variantiVAR_044716126Y → C in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044740132K → E in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs747342068Ensembl.1
Natural variantiVAR_044747133M → R in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005875133M → T in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28934873Ensembl.1
Natural variantiVAR_005881138A → P in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934875Ensembl.1
Natural variantiVAR_044764138A → S in LFS; germline mutation. 1
Natural variantiVAR_005886141C → Y in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781288Ensembl.1
Natural variantiVAR_044790144Q → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005895151P → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28934874Ensembl.1
Natural variantiVAR_005896151P → T in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934874Ensembl.1
Natural variantiVAR_005897152P → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587782705Ensembl.1
Natural variantiVAR_044836155T → N in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044841156R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs371524413Ensembl.1
Natural variantiVAR_005906158R → G in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005907158R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782144Ensembl.1
Natural variantiVAR_033035163Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs148924904Ensembl.1
Natural variantiVAR_044885167Q → K in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044906172V → F in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005926173V → M in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876660754Ensembl.1
Natural variantiVAR_044911174R → G in LFS; germline mutation and in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs864622115Ensembl.1
Natural variantiVAR_005929175R → G in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs138729528Ensembl.1
Natural variantiVAR_005932175R → H in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A. 6 PublicationsCorresponds to variant dbSNP:rs28934578Ensembl.1
Natural variantiVAR_005930175R → L in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934578Ensembl.1
Natural variantiVAR_044939179H → Y in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780070Ensembl.1
Natural variantiVAR_044943180E → K in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs879253911Ensembl.1
Natural variantiVAR_044946181R → C in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782596Ensembl.1
Natural variantiVAR_044948181R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs397514495Ensembl.1
Natural variantiVAR_005937181R → L in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs397514495Ensembl.1
Natural variantiVAR_044949181R → P in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044978189A → V in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912665Ensembl.1
Natural variantiVAR_005948193H → R in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs786201838Ensembl.1
Natural variantiVAR_045007196R → P in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs483352697Ensembl.1
Natural variantiVAR_045010197V → E in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045013197V → M in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786204041Ensembl.1
Natural variantiVAR_045073210N → Y in a familial cancer not matching LFS; germline mutation. 1
Natural variantiVAR_036506213R → P in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587778720Ensembl.1
Natural variantiVAR_005955213R → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587778720Ensembl.1
Natural variantiVAR_045114219P → S in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs879253894Ensembl.1
Natural variantiVAR_005957220Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs121912666Ensembl.1
Natural variantiVAR_045151227S → T in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045175233H → D in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005963234Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780073Ensembl.1
Natural variantiVAR_045186235N → S in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs144340710Ensembl.1
Natural variantiVAR_045189236Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005965237M → I in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782664Ensembl.1
Natural variantiVAR_045200238C → G in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045202238C → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005967238C → Y in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882005Ensembl.1
Natural variantiVAR_005969241S → F in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs28934573Ensembl.1
Natural variantiVAR_047183241S → T in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045224242C → Y in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912655Ensembl.1
Natural variantiVAR_045232244G → D in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045236244G → V in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005972245G → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs28934575Ensembl.1
Natural variantiVAR_005973245G → D in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912656Ensembl.1
Natural variantiVAR_005974245G → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28934575Ensembl.1
Natural variantiVAR_005975245G → V in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912656Ensembl.1
Natural variantiVAR_005978246M → V in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs483352695Ensembl.1
Natural variantiVAR_005983248R → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. 4 PublicationsCorresponds to variant dbSNP:rs11540652Ensembl.1
Natural variantiVAR_005984248R → W in LFS; germline mutation and in sporadic cancers; somatic mutation. 3 PublicationsCorresponds to variant dbSNP:rs121912651Ensembl.1
Natural variantiVAR_045258251I → M in LFS; germline mutation. 1
Natural variantiVAR_005988252L → P in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912653Ensembl.1
Natural variantiVAR_045284257L → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934577Ensembl.1
Natural variantiVAR_005991258E → K in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912652Ensembl.1
Natural variantiVAR_045321265L → P in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs879253942Ensembl.1
Natural variantiVAR_045330267R → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780075Ensembl.1
Natural variantiVAR_045351272V → A in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005992272V → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912657Ensembl.1
Natural variantiVAR_005993273R → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 4 PublicationsCorresponds to variant dbSNP:rs121913343Ensembl.1
Natural variantiVAR_005994273R → G in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005995273R → H in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation. 9 PublicationsCorresponds to variant dbSNP:rs28934576Ensembl.1
Natural variantiVAR_036509273R → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28934576Ensembl.1
Natural variantiVAR_045357273R → S in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121913343Ensembl.1
Natural variantiVAR_005998275C → Y in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs863224451Ensembl.1
Natural variantiVAR_006003278P → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs876659802Ensembl.1
Natural variantiVAR_006004278P → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 3 Publications1
Natural variantiVAR_006005278P → T in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006007280R → K in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2. 2 Publications1
Natural variantiVAR_047202281D → N in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs764146326Ensembl.1
Natural variantiVAR_006014281D → V in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781525Ensembl.1
Natural variantiVAR_045384282R → G in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934574Ensembl.1
Natural variantiVAR_045387282R → Q in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs730882008Ensembl.1
Natural variantiVAR_006016282R → W in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation. 2 PublicationsCorresponds to variant dbSNP:rs28934574Ensembl.1
Natural variantiVAR_006017283R → C in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs149633775Ensembl.1
Natural variantiVAR_006024285E → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006026286E → A in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045411290R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs55819519Ensembl.1
Natural variantiVAR_045412290R → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_015819292K → I in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912663Ensembl.1
Natural variantiVAR_045471305K → M in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045475306R → P in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_006038309P → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_006039325G → V in LFS; germline mutation. 1 PublicationCorresponds to variant dbSNP:rs28934271Ensembl.1
Natural variantiVAR_006041337R → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587782529Ensembl.1
Natural variantiVAR_035016337R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912664Ensembl.1
Natural variantiVAR_045546344L → P in LFS; germline mutation and in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs121912662Ensembl.1
Natural variantiVAR_045568365H → Y in a familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs267605075Ensembl.1
Natural variantiVAR_022317366S → A in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs17881470Ensembl.1
Squamous cell carcinoma of the head and neck (HNSCC)
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionA non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes.
See also OMIM:275355
Lung cancer (LNCR)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis.
See also OMIM:211980
Papilloma of choroid plexus (CPP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA benign tumor of neuroectodermal origin that generally occurs in childhood, but has also been reported in adults. Although generally found within the ventricular system, choroid plexus papillomas can arise ectopically in the brain parenchyma or disseminate throughout the neuraxis. Patients present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures.
See also OMIM:260500
Adrenocortical carcinoma (ADCC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome.
See also OMIM:202300
Basal cell carcinoma 7 (BCC7)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
See also OMIM:614740

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi15S → A: Loss of interaction with PPP2R5C, PPP2CA AND PPP2R1A. 1 Publication1
Mutagenesisi18T → A: No effect on interaction with MDM2 and increase in protein levels after DNA damage. 1 Publication1
Mutagenesisi20S → A: Abolishes phosphorylation site. Abolishes increase in protein levels after DNA damage. 1 Publication1
Mutagenesisi20S → D: Constitutively increased TP53 protein levels. 1 Publication1
Mutagenesisi22 – 23LW → QS: Loss of interaction with MDM2, leading to constitutively increased TP53 protein levels. 1 Publication2
Mutagenesisi37S → D: Abolihes phosphorylation by MAPKAPK5. 1 Publication1
Mutagenesisi46S → A: Abolishes phosphorylation by DYRK2 and HIPK2 and acetylation of K-382 by CREBBP. 3 Publications1
Mutagenesisi46Missing : Alters interaction with WWOX. 3 Publications1
Mutagenesisi55T → A: Blocks phosphorylation by TAF1. 1 Publication1
Mutagenesisi183S → A: Abolishes strongly phosphorylation. 1 Publication1
Mutagenesisi183S → E: Inhibits slightly its transcriptional activity. 1 Publication1
Mutagenesisi248R → S: Does not induce SNAI1 degradation. 1 Publication1
Mutagenesisi269S → A: Abolishes phosphorylation. 1 Publication1
Mutagenesisi269S → E: Inhibits strongly its transcriptional activity. 1 Publication1
Mutagenesisi284T → E: Inhibits strongly its transcriptional activity. 1
Mutagenesisi291 – 292KK → RR: Abolishes polyubiquitination by MKRN1. 1 Publication2
Mutagenesisi319K → A: Loss of nuclear localization; when associated with A-320 and A-321. 1 Publication1
Mutagenesisi320K → A: Loss of nuclear localization; when associated with A-319 and A-321. 1 Publication1
Mutagenesisi321K → A: Loss of nuclear localization; when associated with A-319 and A-320. 1 Publication1
Mutagenesisi359P → D: Abolishes binding to USP7. 1 Publication1
Mutagenesisi361G → E: Abolishes binding to USP7. 1 Publication1
Mutagenesisi362S → A: Abolishes binding to USP7. 1 Publication1
Mutagenesisi370K → R: Induces a decrease in methylation by SMYD2. 1 Publication1
Mutagenesisi372K → R: Induces a decrease in protein stabilization. 1 Publication1
Mutagenesisi373K → R: Abolishes dimethylation by EHMT1 and EHMT2. 1 Publication1
Mutagenesisi382K → A: Abolishes acetylation by CREBBP. 4 Publications1
Mutagenesisi382K → R: Abolishes monomethylation by KMT5A. 4 Publications1
Mutagenesisi383L → A: Abolishes S-315 phosphorylation by CDK2/cyclin A. 1 Publication1
Mutagenesisi385F → A: Reduced SUMO1 conjugation. 2 Publications1
Mutagenesisi386K → A: Abolishes SUMO1 conjugation, in vitro and in vivo. 2 Publications1
Mutagenesisi387T → A: No effect SUMO1 conjugation. 1 Publication1
Mutagenesisi388E → A: Abolishes SUMO1 conjugation. 1 Publication1

Keywords - Diseasei

Disease mutation, Li-Fraumeni syndrome, Tumor suppressor

Organism-specific databases

DisGeNETi7157.
MalaCardsiTP53.
MIMi133239. phenotype.
151623. phenotype.
191170. gene+phenotype.
202300. phenotype.
211980. phenotype.
260500. phenotype.
275355. phenotype.
614740. phenotype.
OpenTargetsiENSG00000141510.
Orphaneti1501. Adrenocortical carcinoma.
67038. B-cell chronic lymphocytic leukemia.
3318. Essential thrombocythemia.
1333. Familial pancreatic carcinoma.
251579. Giant cell glioblastoma.
251576. Gliosarcoma.
524. Li-Fraumeni syndrome.
2807. Papilloma of choroid plexus.
99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBiPA36679.

Chemistry databases

ChEMBLiCHEMBL4096.
DrugBankiDB08363. 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine.
DB00945. Acetylsalicylic acid.
DB05404. AZD 3355.

Polymorphism and mutation databases

BioMutaiTP53.
DMDMi269849759.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001857031 – 393Cellular tumor antigen p53Add BLAST393

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9Phosphoserine; by HIPK41 Publication1
Modified residuei15Phosphoserine; by CDK5, PRPK, AMPK, NUAK1 and ATM8 Publications1
Modified residuei18Phosphothreonine; by CK1, VRK1 and VRK23 Publications1
Modified residuei20Phosphoserine; by CHEK2, CK1 and PLK35 Publications1
Modified residuei33Phosphoserine; by CDK5 and CDK72 Publications1
Modified residuei37Phosphoserine; by MAPKAPK51 Publication1
Modified residuei46Phosphoserine; by CDK5, DYRK2, HIPK2 and PKC/PRKCG5 Publications1
Modified residuei55Phosphothreonine; by TAF1 and GRK52 Publications1
Modified residuei120N6-acetyllysine; by KAT6A1 Publication1
Modified residuei183Phosphoserine; by AURKB1 Publication1
Modified residuei269Phosphoserine; by AURKB1 Publication1
Modified residuei284Phosphothreonine; by AURKB1 Publication1
Cross-linki291Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki292Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei305N6-acetyllysine1 Publication1
Modified residuei315Phosphoserine; by AURKA, CDK1 and CDK22 Publications1
Modified residuei321N6-acetyllysineBy similarity1
Modified residuei370N6,N6-dimethyllysine; alternate2 Publications1
Modified residuei370N6-methyllysine; by SMYD2; alternate2 Publications1
Modified residuei372N6-methyllysine; by SETD72 Publications1
Modified residuei373N6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate1 Publication1
Modified residuei373N6-acetyllysine; alternate1 Publication1
Modified residuei381N6-acetyllysineCombined sources1
Modified residuei382N6,N6-dimethyllysine; alternate3 Publications1
Modified residuei382N6-acetyllysine; by KAT6A; alternateCombined sources3 Publications1
Modified residuei382N6-methyllysine; by KMT5A; alternate3 Publications1
Cross-linki386Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)3 Publications
Modified residuei392Phosphoserine; by CK2, CDK2 and NUAK15 Publications1

Post-translational modificationi

Acetylated. Acetylation of Lys-382 by CREBBP enhances transcriptional activity. Deacetylation of Lys-382 by SIRT1 impairs its ability to induce proapoptotic program and modulate cell senescence. Deacetylation by SIRT2 impairs its ability to induce transcription activation in a AKT-dependent manner.3 Publications
Phosphorylation on Ser residues mediates transcriptional activation. Phosphorylated by HIPK1 (By similarity). Phosphorylation at Ser-9 by HIPK4 increases repression activity on BIRC5 promoter. Phosphorylated on Thr-18 by VRK1. Phosphorylated on Ser-20 by CHEK2 in response to DNA damage, which prevents ubiquitination by MDM2. Phosphorylated on Ser-20 by PLK3 in response to reactive oxygen species (ROS), promoting p53/TP53-mediated apoptosis. Phosphorylated on Thr-55 by TAF1, which promotes MDM2-mediated degradation. Phosphorylated on Ser-33 by CDK7 in a CAK complex in response to DNA damage. Phosphorylated on Ser-46 by HIPK2 upon UV irradiation. Phosphorylation on Ser-46 is required for acetylation by CREBBP. Phosphorylated on Ser-392 following UV but not gamma irradiation. Phosphorylated on Ser-15 upon ultraviolet irradiation; which is enhanced by interaction with BANP. Phosphorylated by NUAK1 at Ser-15 and Ser-392; was intially thought to be mediated by STK11/LKB1 but it was later shown that it is indirect and that STK11/LKB1-dependent phosphorylation is probably mediated by downstream NUAK1 (PubMed:21317932). It is unclear whether AMP directly mediates phosphorylation at Ser-15. Phosphorylated on Thr-18 by isoform 1 and isoform 2 of VRK2. Phosphorylation on Thr-18 by isoform 2 of VRK2 results in a reduction in ubiquitination by MDM2 and an increase in acetylation by EP300. Stabilized by CDK5-mediated phosphorylation in response to genotoxic and oxidative stresses at Ser-15, Ser-33 and Ser-46, leading to accumulation of p53/TP53, particularly in the nucleus, thus inducing the transactivation of p53/TP53 target genes. Phosphorylated by DYRK2 at Ser-46 in response to genotoxic stress. Phosphorylated at Ser-315 and Ser-392 by CDK2 in response to DNA-damage.By similarity32 Publications
Dephosphorylated by PP2A-PPP2R5C holoenzyme at Thr-55. SV40 small T antigen inhibits the dephosphorylation by the AC form of PP2A.
May be O-glycosylated in the C-terminal basic region. Studied in EB-1 cell line.1 Publication
Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal degradation (PubMed:10722742, PubMed:12810724, PubMed:15340061, PubMed:17170702, PubMed:19880522). Ubiquitinated by RFWD3, which works in cooperation with MDM2 and may catalyze the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome (PubMed:10722742, PubMed:12810724, PubMed:20173098). Ubiquitinated by MKRN1 at Lys-291 and Lys-292, which leads to proteasomal degradation (PubMed:19536131). Deubiquitinated by USP10, leading to its stabilization (PubMed:20096447). Ubiquitinated by TRIM24, RFFL, RNF34 and RNF125, which leads to proteasomal degradation (PubMed:19556538). Ubiquitination by TOPORS induces degradation (PubMed:19473992). Deubiquitination by USP7, leading to stabilization (PubMed:15053880). Isoform 4 is monoubiquitinated in an MDM2-independent manner (PubMed:15340061). Ubiquitinated by RFWD2, which leads to proteasomal degradation (PubMed:19837670). Ubiquitination and subsequent proteasomal degradation is negatively regulated by CCAR2 (PubMed:25732823).15 Publications
Monomethylated at Lys-372 by SETD7, leading to stabilization and increased transcriptional activation. Monomethylated at Lys-370 by SMYD2, leading to decreased DNA-binding activity and subsequent transcriptional regulation activity. Lys-372 monomethylation prevents interaction with SMYD2 and subsequent monomethylation at Lys-370. Dimethylated at Lys-373 by EHMT1 and EHMT2. Monomethylated at Lys-382 by KMT5A, promoting interaction with L3MBTL1 and leading to repress transcriptional activity. Dimethylation at Lys-370 and Lys-382 diminishes p53 ubiquitination, through stabilizing association with the methyl reader PHF20. Demethylation of dimethylated Lys-370 by KDM1A prevents interaction with TP53BP1 and represses TP53-mediated transcriptional activation.
Sumoylated with SUMO1. Sumoylated at Lys-386 by UBC9.3 Publications

Keywords - PTMi

Acetylation, Glycoprotein, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP04637.
MaxQBiP04637.
PaxDbiP04637.
PeptideAtlasiP04637.
PRIDEiP04637.

2D gel databases

SWISS-2DPAGEiP04637.

PTM databases

iPTMnetiP04637.
PhosphoSitePlusiP04637.

Miscellaneous databases

PMAP-CutDBiP04637.

Expressioni

Tissue specificityi

Ubiquitous. Isoforms are expressed in a wide range of normal tissues but in a tissue-dependent manner. Isoform 2 is expressed in most normal tissues but is not detected in brain, lung, prostate, muscle, fetal brain, spinal cord and fetal liver. Isoform 3 is expressed in most normal tissues but is not detected in lung, spleen, testis, fetal brain, spinal cord and fetal liver. Isoform 7 is expressed in most normal tissues but is not detected in prostate, uterus, skeletal muscle and breast. Isoform 8 is detected only in colon, bone marrow, testis, fetal brain and intestine. Isoform 9 is expressed in most normal tissues but is not detected in brain, heart, lung, fetal liver, salivary gland, breast or intestine.1 Publication

Inductioni

Up-regulated in response to DNA damage. Isoform 2 is not induced in tumor cells in response to stress.2 Publications

Gene expression databases

BgeeiENSG00000141510.
ExpressionAtlasiP04637. baseline and differential.
GenevisibleiP04637. HS.

Organism-specific databases

HPAiCAB002973.
CAB039238.
CAB039239.
CAB072876.
HPA051244.

Interactioni

Subunit structurei

Interacts with AXIN1. Probably part of a complex consisting of TP53, HIPK2 and AXIN1 (By similarity). Binds DNA as a homotetramer. Interacts with histone acetyltransferases EP300 and methyltransferases HRMT1L2 and CARM1, and recruits them to promoters. In vitro, the interaction of TP53 with cancer-associated/HPV (E6) viral proteins leads to ubiquitination and degradation of TP53 giving a possible model for cell growth regulation. This complex formation requires an additional factor, E6-AP, which stably associates with TP53 in the presence of E6. Interacts (via C-terminus) with TAF1; when TAF1 is part of the TFIID complex. Interacts with ING4; this interaction may be indirect. Found in a complex with CABLES1 and TP73. Interacts with HIPK1, HIPK2, and TP53INP1. Interacts with WWOX. May interact with HCV core protein. Interacts with USP7 and SYVN1. Interacts with HSP90AB1. Interacts with CHD8; leading to recruit histone H1 and prevent transactivation activity (By similarity). Interacts with ARMC10, BANP, CDKN2AIP, NUAK1, STK11/LKB1, UHRF2 and E4F1. Interacts with YWHAZ; the interaction enhances TP53 transcriptional activity. Phosphorylation of YWHAZ on 'Ser-58' inhibits this interaction. Interacts (via DNA-binding domain) with MAML1 (via N-terminus). Interacts with MKRN1. Interacts with PML (via C-terminus). Interacts with MDM2; leading to ubiquitination and proteasomal degradation of TP53. Directly interacts with FBXO42; leading to ubiquitination and degradation of TP53. Interacts (phosphorylated at Ser-15 by ATM) with the phosphatase PP2A-PPP2R5C holoenzyme; regulates stress-induced TP53-dependent inhibition of cell proliferation. Interacts with PPP2R2A. Interacts with AURKA, DAXX, BRD7 and TRIM24. Interacts (when monomethylated at Lys-382) with L3MBTL1. Isoform 1 interacts with isoform 2 and with isoform 4. Interacts with GRK5. Binds to the CAK complex (CDK7, cyclin H and MAT1) in response to DNA damage. Interacts with CDK5 in neurons. Interacts with AURKB, SETD2, UHRF2 and NOC2L. Interacts (via N-terminus) with PTK2/FAK1; this promotes ubiquitination by MDM2. Interacts with PTK2B/PYK2; this promotes ubiquitination by MDM2. Interacts with PRKCG. Interacts with PPIF; the association implicates preferentially tetrameric TP53, is induced by oxidative stress and is impaired by cyclosporin A (CsA). Interacts with human cytomegalovirus/HHV-5 protein UL123. Interacts with SNAI1; the interaction induces SNAI1 degradation via MDM2-mediated ubiquitination and inhibits SNAI1-induced cell invasion. Interacts with KAT6A. Interacts with UBC9. Interacts with ZNF385B; the interaction is direct. Interacts (via DNA-binding domain) with ZNF385A; the interaction is direct and enhances p53/TP53 transactivation functions on cell-cycle arrest target genes, resulting in growth arrest. Interacts with ANKRD2. Interacts with RFFL and RNF34; involved in p53/TP53 ubiquitination. Interacts with MTA1 and RFWD2. Interacts with CCAR2 (via N-terminus). Interacts (via N-terminus) with human adenovirus 5 E1B-55K protein; this interaction leads to the inhibition of TP53 function and/or its degradation (PubMed:25772236). Interacts with MORC3 (PubMed:17332504). Interacts (via C-terminus) with POU4F2 isoform 1 (via C-terminus) (PubMed:17145718). Interacts (via oligomerization region) with NOP53; the interaction is direct and may prevent the MDM2-mediated proteasomal degradation of TP53 (PubMed:22522597). Interacts with AFG1L; mediates mitochondrial translocation of TP53 (PubMed:27323408).By similarity62 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei120Interaction with DNA1

Binary interactionsi

WithEntry#Exp.IntActNotes
itself11EBI-366083,EBI-366083
P0307019EBI-366083,EBI-617698From Simian virus 40.
P266639EBI-366083,EBI-6838571From Hepatitis C virus genotype 1b (isolate BK).
Q7L7W22EBI-366083,EBI-7210801
Q8QW272EBI-366083,EBI-6863726From Hepatitis C virus subtype 1b.
ARIH2O953765EBI-366083,EBI-711158
ASH2LQ9UBL35EBI-366083,EBI-540797
AXIN1O151694EBI-366083,EBI-710484
BANPQ8N9N53EBI-366083,EBI-744695
BCL2P104155EBI-366083,EBI-77694
BCL2L1Q07817-118EBI-366083,EBI-287195
BCRP112742EBI-366083,EBI-712838
BHLHE40O145035EBI-366083,EBI-711810
BRD7Q9NPI18EBI-366083,EBI-711221
BTBD2Q9BX702EBI-366083,EBI-710091
Cables1Q9ESJ13EBI-366083,EBI-604411From Mus musculus.
CCDC106Q9BWC93EBI-366083,EBI-711501
CDKN1AP389363EBI-366083,EBI-375077
CEBPBP176764EBI-366083,EBI-969696
CREBBPQ927939EBI-366083,EBI-81215
CrebbpP454816EBI-366083,EBI-296306From Mus musculus.
CSE1LP550605EBI-366083,EBI-286709
CSNK2A1P684002EBI-366083,EBI-347804
CUL7Q149995EBI-366083,EBI-308606
CUL9Q8IWT34EBI-366083,EBI-311123
CXXC1Q9P0U47EBI-366083,EBI-949911
DAXXQ9UER712EBI-366083,EBI-77321
DDX17Q928413EBI-366083,EBI-746012
DDX5P178446EBI-366083,EBI-351962
DUSP26Q9BV479EBI-366083,EBI-2924519
DVL2O146414EBI-366083,EBI-740850
E6P031263EBI-366083,EBI-1177242From Human papillomavirus type 16.
E6P064633EBI-366083,EBI-1186926From Human papillomavirus type 18.
EP300Q0947210EBI-366083,EBI-447295
FBXO11Q86XK24EBI-366083,EBI-1047804
FOXO3O435242EBI-366083,EBI-1644164
GSK3BP498413EBI-366083,EBI-373586
GTF2H1P327805EBI-366083,EBI-715539
HDAC1Q135477EBI-366083,EBI-301834
HIPK1Q86Z022EBI-366083,EBI-692891
HNRNPKP619782EBI-366083,EBI-304185
HNRNPKP61978-22EBI-366083,EBI-7060731
HSPA1LP349312EBI-366083,EBI-354912
HSPA9P386466EBI-366083,EBI-354932
HSPB1P047923EBI-366083,EBI-352682
HTTP428584EBI-366083,EBI-466029
HUWE1Q7Z6Z73EBI-366083,EBI-625934
IFI16Q16666-23EBI-366083,EBI-6273540
Ifi205bQ086192EBI-366083,EBI-8064290From a different organism.
KAT5Q929933EBI-366083,EBI-399080
KAT8Q9H7Z62EBI-366083,EBI-896414
KMT2EQ8IZD24EBI-366083,EBI-2689959
LAMA4Q163632EBI-366083,EBI-711505
MAGEA2BP433566EBI-366083,EBI-5650739
MAGEC2Q9UBF13EBI-366083,EBI-5651487
MAP1BP468216EBI-366083,EBI-764611
MAPK11Q157592EBI-366083,EBI-298304
MAPKAPK5Q8IW412EBI-366083,EBI-1201460
MDM2Q0098765EBI-366083,EBI-389668
MDM4O1515114EBI-366083,EBI-398437
MKRN1Q9UHC78EBI-366083,EBI-373524
MPDZO759703EBI-366083,EBI-821405
MT1AP047313EBI-366083,EBI-8045030
NCLP193382EBI-366083,EBI-346967
NCOR2Q9Y6187EBI-366083,EBI-80830
NFYAP2351111EBI-366083,EBI-389739
NFYBP252086EBI-366083,EBI-389728
NOC2LQ9Y3T98EBI-366083,EBI-751547
NPM1P067486EBI-366083,EBI-78579
NPM1P06748-13EBI-366083,EBI-354150
NR0B2Q154663EBI-366083,EBI-3910729
NR4A1P227366EBI-366083,EBI-721550
NRDCO438476EBI-366083,EBI-2371631
NSP1P890556EBI-366083,EBI-9522973From Rotavirus sp..
NUAK1O602855EBI-366083,EBI-1046789
OTUB1Q96FW18EBI-366083,EBI-1058491
PARD3Q8TEW03EBI-366083,EBI-81968
PARP1P098743EBI-366083,EBI-355676
PBKQ96KB57EBI-366083,EBI-536853
PHBP352326EBI-366083,EBI-354213
PIAS1O759254EBI-366083,EBI-629434
PIAS2O759282EBI-366083,EBI-348555
PIAS4Q8N2W92EBI-366083,EBI-473160
PIN1Q1352612EBI-366083,EBI-714158
PLK1P533506EBI-366083,EBI-476768
PMLP295904EBI-366083,EBI-295890
PPIFP304054EBI-366083,EBI-5544229
PPP1CCP36873-12EBI-366083,EBI-356289
PPP1R13LQ8WUF511EBI-366083,EBI-5550163
PPP2R1AP301533EBI-366083,EBI-302388
PPP2R5CQ133624EBI-366083,EBI-1266156
PRKCDQ056554EBI-366083,EBI-704279
PSME3P612897EBI-366083,EBI-355546
PTK2Q0539713EBI-366083,EBI-702142
RAD51Q066092EBI-366083,EBI-297202
RCHY1Q96PM57EBI-366083,EBI-947779
RPS3P233964EBI-366083,EBI-351193
RYBPQ8N4883EBI-366083,EBI-752324
S100A1P232972EBI-366083,EBI-743686
S100A2P290342EBI-366083,EBI-752230
S100A4P264477EBI-366083,EBI-717058
S100BP042712EBI-366083,EBI-458391
SAFBQ154245EBI-366083,EBI-348298
SETD7Q8WTS66EBI-366083,EBI-1268586
SFNP319474EBI-366083,EBI-476295
SIN3AQ96ST32EBI-366083,EBI-347218
SIRT1Q96EB613EBI-366083,EBI-1802965
Sirt1Q923E44EBI-366083,EBI-1802585From Mus musculus.
SMAD2Q157967EBI-366083,EBI-1040141
SNAI1O958632EBI-366083,EBI-1045459
SREBF2Q127723EBI-366083,EBI-465059
SRPK1Q96SB43EBI-366083,EBI-539478
SYVN1Q86TM65EBI-366083,EBI-947849
TBPP202262EBI-366083,EBI-355371
TCF4P158842EBI-366083,EBI-533224
TOE1Q96GM83EBI-366083,EBI-717460
TP53BP1Q128882EBI-366083,EBI-396540
TP53BP2Q136255EBI-366083,EBI-77642
TP63Q9H3D45EBI-366083,EBI-2337775
Tp63O888982EBI-366083,EBI-2338025From Mus musculus.
TPT1P136935EBI-366083,EBI-1783169
TWIST1Q1567210EBI-366083,EBI-1797287
Twist1P266874EBI-366083,EBI-6123119From Mus musculus.
UBCP0CG4815EBI-366083,EBI-3390054
UBE3AQ050863EBI-366083,EBI-954357
UHRF2Q96PU43EBI-366083,EBI-625304
USP42Q9H9J42EBI-366083,EBI-2513638
USP42Q9H9J4-22EBI-366083,EBI-9118105
USP7Q9300917EBI-366083,EBI-302474
VDRP114736EBI-366083,EBI-286357
VRK1Q999869EBI-366083,EBI-1769146
WRNQ141915EBI-366083,EBI-368417
XRCC6P129562EBI-366083,EBI-353208
YWHAGP619815EBI-366083,EBI-359832
YWHAZP631042EBI-366083,EBI-347088
ZNF420Q8TAQ54EBI-366083,EBI-3923307
znf585bQ9PST73EBI-366083,EBI-1782562From Xenopus laevis.

GO - Molecular functioni

  • chaperone binding Source: UniProtKB
  • disordered domain specific binding Source: CAFA
  • enzyme binding Source: UniProtKB
  • histone acetyltransferase binding Source: UniProtKB
  • histone deacetylase binding Source: CAFA
  • identical protein binding Source: CAFA
  • p53 binding Source: CAFA
  • protease binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • protein phosphatase 2A binding Source: UniProtKB
  • protein phosphatase binding Source: UniProtKB
  • protein self-association Source: AgBase
  • receptor tyrosine kinase binding Source: BHF-UCL
  • RNA polymerase II transcription factor binding Source: BHF-UCL
  • transcription factor binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB
Complete GO annotation...

Protein-protein interaction databases

BioGridi113010. 1022 interactors.
DIPiDIP-368N.
IntActiP04637. 416 interactors.
MINTiMINT-91013.
STRINGi9606.ENSP00000269305.

Chemistry databases

BindingDBiP04637.

Structurei

Secondary structure

1393
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi3 – 6Combined sources4
Turni8 – 10Combined sources3
Helixi19 – 23Combined sources5
Beta strandi27 – 29Combined sources3
Beta strandi33 – 35Combined sources3
Helixi36 – 38Combined sources3
Helixi41 – 44Combined sources4
Helixi47 – 55Combined sources9
Turni105 – 108Combined sources4
Beta strandi110 – 112Combined sources3
Beta strandi119 – 121Combined sources3
Beta strandi124 – 127Combined sources4
Turni128 – 131Combined sources4
Beta strandi132 – 135Combined sources4
Beta strandi141 – 146Combined sources6
Beta strandi156 – 165Combined sources10
Helixi166 – 168Combined sources3
Helixi177 – 180Combined sources4
Beta strandi181 – 183Combined sources3
Beta strandi187 – 189Combined sources3
Beta strandi194 – 199Combined sources6
Beta strandi204 – 207Combined sources4
Turni209 – 211Combined sources3
Beta strandi214 – 219Combined sources6
Turni225 – 227Combined sources3
Beta strandi228 – 236Combined sources9
Helixi240 – 242Combined sources3
Turni243 – 248Combined sources6
Beta strandi251 – 258Combined sources8
Beta strandi260 – 262Combined sources3
Beta strandi264 – 274Combined sources11
Helixi278 – 287Combined sources10
Helixi288 – 290Combined sources3
Helixi322 – 324Combined sources3
Beta strandi327 – 334Combined sources8
Helixi335 – 354Combined sources20
Helixi375 – 380Combined sources6
Helixi381 – 385Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A1UNMR-A/C324-358[»]
1AIEX-ray1.50A326-356[»]
1C26X-ray1.70A325-356[»]
1DT7NMR-X/Y367-388[»]
1GZHX-ray2.60A/C95-292[»]
1H26X-ray2.24E376-386[»]
1HS5NMR-A/B324-357[»]
1JSPNMR-A367-386[»]
1KZYX-ray2.50A/B95-289[»]
1MA3X-ray2.00B372-389[»]
1OLGNMR-A/B/C/D319-360[»]
1OLHNMR-A/B/C/D319-360[»]
1PESNMR-A/B/C/D325-355[»]
1PETNMR-A/B/C/D325-355[»]
1SAENMR-A/B/C/D319-360[»]
1SAFNMR-A/B/C/D319-360[»]
1SAKNMR-A/B/C/D319-360[»]
1SALNMR-A/B/C/D319-360[»]
1TSRX-ray2.20A/B/C94-312[»]
1TUPX-ray2.20A/B/C94-312[»]
1UOLX-ray1.90A/B94-312[»]
1XQHX-ray1.75B/F369-377[»]
1YC5X-ray1.40B372-389[»]
1YCQX-ray2.30B13-29[»]
1YCRX-ray2.60B15-29[»]
1YCSX-ray2.20A94-292[»]
2AC0X-ray1.80A/B/C/D94-293[»]
2ADYX-ray2.50A/B94-293[»]
2AHIX-ray1.85A/B/C/D94-293[»]
2ATAX-ray2.20A/B/C/D94-293[»]
2B3GX-ray1.60B33-60[»]
2BIMX-ray1.98A/B94-312[»]
2BINX-ray1.90A94-312[»]
2BIOX-ray1.90A94-312[»]
2BIPX-ray1.80A94-312[»]
2BIQX-ray1.80A94-312[»]
2F1XX-ray2.30A/B359-368[»]
2FEJNMR-A94-297[»]
2FOJX-ray1.60B361-367[»]
2FOOX-ray2.20B358-363[»]
2GS0NMR-B20-73[»]
2H1LX-ray3.16M/N/O/P/Q/R/S/T/U/V/W/X92-292[»]
2H2DX-ray1.70B372-389[»]
2H2FX-ray2.20B372-389[»]
2H4FX-ray2.00D372-389[»]
2H4HX-ray1.99B372-389[»]
2H4JX-ray2.10D372-389[»]
2H59X-ray1.90D/E372-389[»]
2J0ZNMR-A/B/C/D326-356[»]
2J10NMR-A/B/C/D326-356[»]
2J11NMR-A/B/C/D326-356[»]
2J1WX-ray1.80A/B94-312[»]
2J1XX-ray1.65A/B94-312[»]
2J1YX-ray1.69A/B/C/D94-293[»]
2J1ZX-ray1.80A/B94-312[»]
2J20X-ray1.80A/B94-312[»]
2J21X-ray1.60A/B94-312[»]
2K8FNMR-B1-39[»]
2L14NMR-B13-61[»]
2LY4NMR-B1-93[»]
2MEJNMR-B96-312[»]
2MWONMR-B363-377[»]
2MWPNMR-B376-387[»]
2MWYNMR-B15-29[»]
2MZDNMR-B35-59[»]
2OCJX-ray2.05A/B/C/D94-312[»]
2PCXX-ray1.54A94-292[»]
2RUKNMR-A41-62[»]
2VUKX-ray1.50A/B94-312[»]
2WGXX-ray1.75A/B94-312[»]
2X0UX-ray1.60A/B94-312[»]
2X0VX-ray1.80A/B94-312[»]
2X0WX-ray2.10A/B94-312[»]
2XWRX-ray1.68A/B89-293[»]
2YBGX-ray1.90A/B/C/D94-293[»]
2YDRX-ray2.75P144-154[»]
2Z5SX-ray2.30P/Q/R15-29[»]
2Z5TX-ray2.30P/Q/R15-29[»]
3D05X-ray1.70A94-293[»]
3D06X-ray1.20A94-293[»]
3D07X-ray2.20A/B94-293[»]
3D08X-ray1.40A94-293[»]
3D09X-ray1.90A94-293[»]
3D0AX-ray1.80A/B/C/D94-293[»]
3DABX-ray1.90B/D/F/H15-29[»]
3DACX-ray1.80B/P17-37[»]
3IGKX-ray1.70A94-293[»]
3IGLX-ray1.80A94-293[»]
3KMDX-ray2.15A/B/C/D92-291[»]
3KZ8X-ray1.91A/B94-293[»]
3LW1X-ray1.28P385-393[»]
3OQ5X-ray2.50D/E377-386[»]
3PDHX-ray1.80D372-389[»]
3Q01X-ray2.10A/B94-356[»]
3Q05X-ray2.40A/B/C/D94-356[»]
3Q06X-ray3.20A/B/C/D96-354[»]
3SAKNMR-A/B/C/D319-360[»]
3TG5X-ray2.30B365-375[»]
3TS8X-ray2.80A/B/C/D94-356[»]
3ZMEX-ray1.35A/B94-312[»]
4AGLX-ray1.70A/B94-312[»]
4AGMX-ray1.52A/B94-312[»]
4AGNX-ray1.60A/B94-312[»]
4AGOX-ray1.45A/B94-312[»]
4AGPX-ray1.50A/B94-312[»]
4AGQX-ray1.42A/B94-312[»]
4BUZX-ray1.90P379-386[»]
4BV2X-ray3.30E/H376-388[»]
4HFZX-ray2.69B/D15-29[»]
4HJEX-ray1.91A/B/C/D92-291[»]
4IBQX-ray1.80A/B/C/D94-293[»]
4IBSX-ray1.78A/B/C/D94-293[»]
4IBTX-ray1.70A/B/C/D94-293[»]
4IBUX-ray1.70A/B/C/D94-293[»]
4IBVX-ray2.10A94-293[»]
4IBWX-ray1.79A94-293[»]
4IBYX-ray1.45A/B94-293[»]
4IBZX-ray1.92A/B/C/D94-293[»]
4IJTX-ray1.78A94-293[»]
4KVPX-ray1.50A/B/C/D94-312[»]
4LO9X-ray2.50A/B/C/D94-312[»]
4LOEX-ray1.85A/B/C/D94-312[»]
4LOFX-ray2.00A94-312[»]
4MZIX-ray1.25A94-292[»]
4MZRX-ray2.90A/B/C/D94-388[»]
4QO1X-ray1.92B92-312[»]
4RP6X-ray1.70Z252-258[»]
4RP7X-ray1.58Z253-258[»]
4X34X-ray1.80C/D377-386[»]
4XR8X-ray2.25C/D94-292[»]
4ZZJX-ray2.74B379-383[»]
5A7BX-ray1.40A/B94-312[»]
5AB9X-ray1.36A/B94-312[»]
5ABAX-ray1.62A/B94-312[»]
5AOIX-ray1.78A/B94-312[»]
5AOJX-ray1.47A/B94-312[»]
5AOKX-ray1.35A/B94-312[»]
5AOLX-ray1.50A/B94-312[»]
5AOMX-ray1.74A/B94-312[»]
5BUAX-ray1.81A94-293[»]
5ECGX-ray3.00A/B95-312[»]
5G4MX-ray1.38A/B94-312[»]
5G4NX-ray1.35A/B94-312[»]
5G4OX-ray1.48A/B94-312[»]
5HOUNMR-A1-61[»]
5HP0NMR-A37-61[»]
5HPDNMR-A2-61[»]
5LAPX-ray1.42A/B94-312[»]
5LGYX-ray2.92A/B/C/D94-291[»]
5UN8X-ray2.13E/F/G/H144-154[»]
DisProtiDP00086.
ProteinModelPortaliP04637.
SMRiP04637.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP04637.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 320Interaction with CCAR21 PublicationAdd BLAST320
Regioni1 – 83Interaction with HRMT1L21 PublicationAdd BLAST83
Regioni1 – 44Transcription activation (acidic)Add BLAST44
Regioni66 – 110Interaction with WWOXAdd BLAST45
Regioni100 – 370Interaction with HIPK1By similarityAdd BLAST271
Regioni100 – 300Required for interaction with ZNF385A1 PublicationAdd BLAST201
Regioni113 – 236Required for interaction with FBXO421 PublicationAdd BLAST124
Regioni116 – 292Interaction with AXIN1By similarityAdd BLAST177
Regioni241 – 248Interaction with the 53BP2 SH3 domain8
Regioni256 – 294Interaction with E4F11 PublicationAdd BLAST39
Regioni273 – 280Interaction with DNA8
Regioni300 – 393Interaction with CARM11 PublicationAdd BLAST94
Regioni319 – 360Interaction with HIPK2Add BLAST42
Regioni325 – 356OligomerizationAdd BLAST32
Regioni359 – 363Interaction with USP75
Regioni368 – 387Basic (repression of DNA-binding)Add BLAST20

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi17 – 25TADI9
Motifi48 – 56TADII9
Motifi305 – 321Bipartite nuclear localization signalAdd BLAST17
Motifi339 – 350Nuclear export signalAdd BLAST12
Motifi370 – 372[KR]-[STA]-K motif3

Domaini

The nuclear export signal acts as a transcriptional repression domain. The TADI and TADII motifs (residues 17 to 25 and 48 to 56) correspond both to 9aaTAD motifs which are transactivation domains present in a large number of yeast and animal transcription factors.1 Publication

Sequence similaritiesi

Belongs to the p53 family.Curated

Phylogenomic databases

eggNOGiENOG410IITK. Eukaryota.
ENOG410ZSWV. LUCA.
GeneTreeiENSGT00390000015092.
HOVERGENiHBG005201.
InParanoidiP04637.
KOiK04451.
OMAiPATSWPL.
OrthoDBiEOG091G0XY5.
PhylomeDBiP04637.
TreeFamiTF106101.

Family and domain databases

CDDicd08367. P53. 1 hit.
Gene3Di2.60.40.720. 1 hit.
4.10.170.10. 1 hit.
InterProiView protein in InterPro
IPR008967. p53-like_TF_DNA-bd.
IPR012346. p53/RUNT-type_TF_DNA-bd.
IPR011615. p53_DNA-bd.
IPR010991. p53_tetrameristn.
IPR013872. p53_transactivation_domain.
IPR002117. p53_tumour_suppressor.
PANTHERiPTHR11447. PTHR11447. 1 hit.
PfamiView protein in Pfam
PF00870. P53. 1 hit.
PF08563. P53_TAD. 1 hit.
PF07710. P53_tetramer. 1 hit.
PRINTSiPR00386. P53SUPPRESSR.
SUPFAMiSSF47719. SSF47719. 1 hit.
SSF49417. SSF49417. 1 hit.
PROSITEiView protein in PROSITE
PS00348. P53. 1 hit.

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P04637-1) [UniParc]FASTAAdd to basket
Also known as: p53, p53alpha

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI 
        60         70         80         90        100
EQWFTEDPGP DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ 
       110        120        130        140        150
KTYQGSYGFR LGFLHSGTAK SVTCTYSPAL NKMFCQLAKT CPVQLWVDST 
       160        170        180        190        200
PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE RCSDSDGLAP PQHLIRVEGN 
       210        220        230        240        250
LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS SCMGGMNRRP 
       260        270        280        290        300
ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP 
       310        320        330        340        350
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL 
       360        370        380        390 
KDAQAGKEPG GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD
Length:393
Mass (Da):43,653
Last modified:November 24, 2009 - v4
Checksum:iAD5C149FD8106131
GO
Isoform 2 (identifier: P04637-2) [UniParc]FASTAAdd to basket
Also known as: I9RET, p53beta

The sequence of this isoform differs from the canonical sequence as follows:
     332-341: IRGRERFEMF → DQTSFQKENC
     342-393: Missing.

Note: Expressed in quiescent lymphocytes. Seems to be non-functional. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:341
Mass (Da):37,826
Checksum:i2C5FE7A14A575E43
GO
Isoform 3 (identifier: P04637-3) [UniParc]FASTAAdd to basket
Also known as: p53gamma

The sequence of this isoform differs from the canonical sequence as follows:
     332-346: IRGRERFEMFRELNE → MLLDLRWCYFLINSS
     347-393: Missing.

Note: Expressed in quiescent lymphocytes. Seems to be non-functional. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:346
Mass (Da):38,501
Checksum:i6F18E09F8CD9129F
GO
Isoform 4 (identifier: P04637-4) [UniParc]FASTAAdd to basket
Also known as: Del40-p53, Del40-p53alpha, p47

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.

Show »
Length:354
Mass (Da):39,320
Checksum:i6F12310423325770
GO
Isoform 5 (identifier: P04637-5) [UniParc]FASTAAdd to basket
Also known as: Del40-p53beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.
     332-341: IRGRERFEMF → DQTSFQKENC
     342-393: Missing.

Show »
Length:302
Mass (Da):33,493
Checksum:i4F1FC7A2E891AAAA
GO
Isoform 6 (identifier: P04637-6) [UniParc]FASTAAdd to basket
Also known as: Del40-p53gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.
     332-346: IRGRERFEMFRELNE → MLLDLRWCYFLINSS
     347-393: Missing.

Show »
Length:307
Mass (Da):34,168
Checksum:i6D2531A0C28A52BF
GO
Isoform 7 (identifier: P04637-7) [UniParc]FASTAAdd to basket
Also known as: Del133-p53, Del133-p53alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-132: Missing.

Note: Produced by alternative promoter usage.
Show »
Length:261
Mass (Da):29,553
Checksum:iF23A85FFAA4D34EB
GO
Isoform 8 (identifier: P04637-8) [UniParc]FASTAAdd to basket
Also known as: Del133-p53beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-132: Missing.
     332-341: IRGRERFEMF → DQTSFQKENC
     342-393: Missing.

Note: Produced by alternative promoter usage and alternative splicing.
Show »
Length:209
Mass (Da):23,726
Checksum:iB1AEDABFD4CA82F5
GO
Isoform 9 (identifier: P04637-9) [UniParc]FASTAAdd to basket
Also known as: Del133-p53gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-132: Missing.
     332-346: IRGRERFEMFRELNE → MLLDLRWCYFLINSS
     347-393: Missing.

Note: Produced by alternative promoter usage and alternative splicing.
Show »
Length:214
Mass (Da):24,401
Checksum:i7CF309CB3CE4E3A2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0445435Q → H in a sporadic cancer; somatic mutation; abolishes strongly phosphorylation. 1
Natural variantiVAR_0445446S → L in a sporadic cancer; somatic mutation; reduces interaction with ZNF385A. 1
Natural variantiVAR_0058517D → H in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs587782646Ensembl.1
Natural variantiVAR_0445458P → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04454610V → I in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs535274413Ensembl.1
Natural variantiVAR_04454711E → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs201382018Ensembl.1
Natural variantiVAR_04454811E → Q in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs201382018Ensembl.1
Natural variantiVAR_04454915S → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04455016Q → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04455117E → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04455224K → N in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04455328E → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04715829 – 30NN → KD in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_04455431V → I in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs201753350Ensembl.1
Natural variantiVAR_04455533S → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04455634P → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_00585235L → F in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912661Ensembl.1
Natural variantiVAR_04455736P → L in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs587781866Ensembl.1
Natural variantiVAR_04455837S → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04455937S → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04456039A → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04456139A → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04456242D → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_00585343L → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04456344M → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04456444M → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04456544M → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04456645L → M in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04456746S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04456846S → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876659630Ensembl.1
Natural variantiVAR_04456947P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_01463247P → S1 PublicationCorresponds to variant dbSNP:rs1800371Ensembl.1
Natural variantiVAR_04457048D → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04457149D → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780728Ensembl.1
Natural variantiVAR_04457249D → N in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs587780728Ensembl.1
Natural variantiVAR_04457349D → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04457452Q → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_00585453W → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04457553W → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04457654F → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04457754F → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04457856E → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04457956E → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04458058P → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04458158P → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04458259G → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04458359G → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04578359G → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_04458460P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04458560P → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_00585560P → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04458661D → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04458761D → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04458862E → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04458963A → T in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs876658902Ensembl.1
Natural variantiVAR_04459063A → V in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs372201428Ensembl.1
Natural variantiVAR_04459165R → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04459266M → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04459366M → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04459467P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04459567P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04459667P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04459768E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04459868E → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04459969A → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04460069A → G in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs756233241Ensembl.1
Natural variantiVAR_04460169A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04460269A → V in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs756233241Ensembl.1
Natural variantiVAR_04460370A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04460471P → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04578472P → C in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs730882014Ensembl.1
Natural variantiVAR_04578572P → G in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_04578672P → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs1042522Ensembl.1
Natural variantiVAR_04578772P → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_00585672P → R4 PublicationsCorresponds to variant dbSNP:rs1042522Ensembl.1
Natural variantiVAR_04460573V → E in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04460673V → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04460773V → M in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782423Ensembl.1
Natural variantiVAR_04460874A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04460975P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04461075P → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04461175P → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04461276A → G in a sporadic cancer; somatic mutation. 1 Publication1
Natural variantiVAR_04461376A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04461477P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04461578A → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04461679A → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_00585779A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04461779A → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04461880P → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04461980P → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04462081T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04462182P → L in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs534447939Ensembl.1
Natural variantiVAR_04462282P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04462383A → E in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs201717599Ensembl.1
Natural variantiVAR_04462483A → V in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs201717599Ensembl.1
Natural variantiVAR_04462584A → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04462684A → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04462785P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04462885P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04462986A → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_00585887P → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04463088A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04463188A → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04463289P → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730881994Ensembl.1
Natural variantiVAR_04463389P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04463490S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04463590S → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04463691W → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04463792P → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04463892P → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04463992P → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04464093L → M in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04464193L → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04464294S → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_00585994S → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04464395S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04464495S → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04464596S → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04464696S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04464796S → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04464897V → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04464997V → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04465097V → I in familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_04465198P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04465298P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04465399S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_04465499S → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044655100Q → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044656101K → N in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs878854069Ensembl.1
Natural variantiVAR_044657101K → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044658102T → I in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786202717Ensembl.1
Natural variantiVAR_044659104Q → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044660104Q → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044661105G → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044662105G → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781504Ensembl.1
Natural variantiVAR_044663105G → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044664105G → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044665105G → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044666106S → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044667106S → R in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044668107Y → C in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs587782447Ensembl.1
Natural variantiVAR_044669107Y → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044670107Y → H in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs368771578Ensembl.1
Natural variantiVAR_044671108G → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044672108G → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782461Ensembl.1
Natural variantiVAR_044673109F → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044674109F → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044675109F → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005860110R → C in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781371Ensembl.1
Natural variantiVAR_044676110R → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044677110R → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs11540654Ensembl.1
Natural variantiVAR_005861110R → L in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation. 1 PublicationCorresponds to variant dbSNP:rs11540654Ensembl.1
Natural variantiVAR_005862110R → P in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs11540654Ensembl.1
Natural variantiVAR_044678110R → S in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs587781371Ensembl.1
Natural variantiVAR_044679111L → M in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044680111L → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044681111L → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044682111L → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044683112G → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044684112G → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005863113F → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045788113F → G in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044685113F → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044686113F → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044687113F → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_033033113F → V in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587781642Ensembl.1
Natural variantiVAR_044688115H → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044689116S → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044690116S → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044691116S → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044692117G → E in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs755238756Ensembl.1
Natural variantiVAR_044693117G → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044694118T → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044695118T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044696118T → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044697119A → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044698119A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044699120K → E in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912658Ensembl.1
Natural variantiVAR_044700120K → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044701120K → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044702120K → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044703121S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044704122V → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044705123T → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044706123T → N in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044707124C → G in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs730881997Ensembl.1
Natural variantiVAR_044708124C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044709124C → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730881997Ensembl.1
Natural variantiVAR_044710124C → W in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044711124C → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044712125T → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044713125T → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786201057Ensembl.1
Natural variantiVAR_005864125T → M in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786201057Ensembl.1
Natural variantiVAR_044714125T → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044715125T → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044716126Y → C in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005865126Y → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044717126Y → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045789126Y → G in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044718126Y → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005866126Y → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044719126Y → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044720127S → C in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs730881999Ensembl.1
Natural variantiVAR_005867127S → F in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730881999Ensembl.1
Natural variantiVAR_044721127S → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044722127S → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044723127S → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044724128P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044725128P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044726128P → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005868128P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005869129A → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044727129A → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044728129A → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044729129A → V in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs137852792Ensembl.1
Natural variantiVAR_044730130L → F in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs863224683Ensembl.1
Natural variantiVAR_044731130L → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044732130L → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044733130L → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005870130L → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044734130L → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044735131N → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044736131N → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044737131N → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005872131N → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs769270327Ensembl.1
Natural variantiVAR_005871131N → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044738131N → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044739131N → Y in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782160Ensembl.1
Natural variantiVAR_047159132 – 133KM → NL in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_044740132K → E in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs747342068Ensembl.1
Natural variantiVAR_045790132K → L in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_005873132K → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044741132K → N in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs866775781Ensembl.1
Natural variantiVAR_005874132K → Q in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_044742132K → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044743132K → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045791132K → W in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044744133M → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044745133M → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044746133M → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044747133M → R in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005875133M → T in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28934873Ensembl.1
Natural variantiVAR_044748133M → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044749134F → C in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs780442292Ensembl.1
Natural variantiVAR_044750134F → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_036504134F → L in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs267605077Ensembl.1
Natural variantiVAR_044751134F → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044752134F → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005877135C → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044753135C → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044754135C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005876135C → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045792135C → T in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044755135C → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044756135C → Y in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP. Corresponds to variant dbSNP:rs587781991Ensembl.1
Natural variantiVAR_005878136Q → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044757136Q → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs758781593Ensembl.1
Natural variantiVAR_005879136Q → K in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044758136Q → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044759136Q → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044760137L → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044761137L → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005880137L → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044762137L → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044763138A → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005881138A → P in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934875Ensembl.1
Natural variantiVAR_044764138A → S in LFS; germline mutation. 1
Natural variantiVAR_044765138A → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_033034138A → V in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs750600586Ensembl.1
Natural variantiVAR_044766139K → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005882139K → N in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_044767139K → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044768139K → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044769139K → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044770140T → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044771140T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044772140T → N in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs786202561Ensembl.1
Natural variantiVAR_044773140T → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044774140T → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045793141C → A in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_005885141C → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005884141C → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044775141C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044776141C → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044777141C → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005886141C → Y in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781288Ensembl.1
Natural variantiVAR_044778142P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045794142P → F in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044779142P → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044780142P → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs779196500Ensembl.1
Natural variantiVAR_044781142P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044782142P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044783142P → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005887143V → A in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A. 2 Publications1
Natural variantiVAR_044784143V → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044785143V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044786143V → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782620Ensembl.1
Natural variantiVAR_044787143V → M in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782620Ensembl.1
Natural variantiVAR_044788144Q → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044789144Q → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044790144Q → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005888144Q → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786203071Ensembl.1
Natural variantiVAR_044791144Q → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044792145L → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005889145L → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782197Ensembl.1
Natural variantiVAR_005890145L → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044793145L → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044794145L → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044795146W → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044796146W → G in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786203064Ensembl.1
Natural variantiVAR_044797146W → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044798146W → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044799146W → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044800147V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005891147V → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044801147V → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044802147V → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005892147V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044803147V → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044804148D → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044805148D → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044806148D → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044807148D → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044808148D → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044809148D → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044810149S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005893149S → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044811149S → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044812150T → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044813150T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044814150T → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044815150T → N in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044816150T → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044817150T → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005894151P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044818151P → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044819151P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044820151P → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005895151P → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28934874Ensembl.1
Natural variantiVAR_005896151P → T in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934874Ensembl.1
Natural variantiVAR_044821152P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005897152P → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587782705Ensembl.1
Natural variantiVAR_044822152P → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044823152P → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005898152P → S in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs767328513Ensembl.1
Natural variantiVAR_044824152P → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044825153P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045795153P → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044826153P → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044827153P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044828153P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044829153P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005899153P → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044830154G → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044831154G → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044832154G → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs762846821Ensembl.1
Natural variantiVAR_045796154G → I in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044833154G → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs137852789Ensembl.1
Natural variantiVAR_005900154G → V in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_005901155T → A in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs772683278Ensembl.1
Natural variantiVAR_044834155T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044835155T → M in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044836155T → N in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044837155T → P in sporadic cancers; somatic mutation; does not induce SNAI1 degradation. 2 Publications1
Natural variantiVAR_044838155T → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786202752Ensembl.1
Natural variantiVAR_044839156R → C in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs563378859Ensembl.1
Natural variantiVAR_044840156R → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044841156R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs371524413Ensembl.1
Natural variantiVAR_044842156R → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005902156R → P in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_044843156R → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044844157V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005903157V → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005904157V → F in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912654Ensembl.1
Natural variantiVAR_044845157V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_012977157V → I in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912654Ensembl.1
Natural variantiVAR_044846157V → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005905158R → C in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780068Ensembl.1
Natural variantiVAR_045797158R → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_005906158R → G in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005907158R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782144Ensembl.1
Natural variantiVAR_044847158R → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044848158R → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782144Ensembl.1
Natural variantiVAR_044849158R → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044850158R → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045798158R → Y in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044851159A → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045799159A → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs730882022Ensembl.1
Natural variantiVAR_044852159A → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044853159A → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882000Ensembl.1
Natural variantiVAR_044854159A → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044855159A → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044856159A → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047160160 – 161MA → IP in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_047161160 – 161MA → IS in sporadic cancers; somatic mutation. 2
Natural variantiVAR_047162160 – 161MA → IT in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_005908160M → I in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs772354334Ensembl.1
Natural variantiVAR_044857160M → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044858160M → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044859160M → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044860161A → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045800161A → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044861161A → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044862161A → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005909161A → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044863161A → T in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs193920817Ensembl.1
Natural variantiVAR_044864161A → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044865162I → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044866162I → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044867162I → N in a breast cancer with no family history; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005910162I → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780069Ensembl.1
Natural variantiVAR_044868162I → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005911162I → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_033035163Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs148924904Ensembl.1
Natural variantiVAR_044869163Y → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786203436Ensembl.1
Natural variantiVAR_044870163Y → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005912163Y → H in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_044871163Y → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044872163Y → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044873164K → E in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs879254249Ensembl.1
Natural variantiVAR_044874164K → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005913164K → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005914164K → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044875164K → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044876164K → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044877165Q → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044878165Q → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005915165Q → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044879165Q → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005916165Q → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044880166S → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044881166S → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005917166S → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044882166S → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044883166S → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047163167 – 168QH → HD in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_047164167 – 168QH → YL in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_044884167Q → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044885167Q → K in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044886167Q → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044887167Q → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047165168 – 169HM → LI in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_044888168H → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044889168H → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044890168H → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044891168H → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044892168H → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005918168H → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs867114783Ensembl.1
Natural variantiVAR_045801168H → V in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044893168H → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047166169 – 170MT → IS in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_005919169M → I in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_044894169M → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005920169M → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044895169M → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044896170T → A in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780729Ensembl.1
Natural variantiVAR_044897170T → K in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005921170T → M in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs779000871Ensembl.1
Natural variantiVAR_044898170T → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005922170T → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044899171E → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044900171E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044901171E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044902171E → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781845Ensembl.1
Natural variantiVAR_044903171E → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044904171E → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005923172V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044905172V → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044906172V → F in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044907172V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044908172V → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044909173V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005924173V → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044910173V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005925173V → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005926173V → M in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876660754Ensembl.1
Natural variantiVAR_045802173V → W in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044911174R → G in LFS; germline mutation and in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs864622115Ensembl.1
Natural variantiVAR_005927174R → K in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_044912174R → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044913174R → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044914174R → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044915174R → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005928175R → C in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs138729528Ensembl.1
Natural variantiVAR_005929175R → G in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs138729528Ensembl.1
Natural variantiVAR_005932175R → H in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A. 6 PublicationsCorresponds to variant dbSNP:rs28934578Ensembl.1
Natural variantiVAR_005930175R → L in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934578Ensembl.1
Natural variantiVAR_005931175R → P in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_044916175R → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044917175R → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047167176 – 177CP → FS in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_005933176C → F in sporadic cancers; somatic mutation. 4 Publications1
Natural variantiVAR_044918176C → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044919176C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044920176C → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005934176C → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044921176C → Y in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786202962Ensembl.1
Natural variantiVAR_044922177P → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045803177P → F in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044923177P → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045804177P → I in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_005935177P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_036505177P → R in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs751477326Ensembl.1
Natural variantiVAR_044924177P → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs147002414Ensembl.1
Natural variantiVAR_044925177P → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_047168178 – 179HH → QS in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_044926178H → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005936178H → HPHP in a Burkitt lymphoma. 1 Publication1
Natural variantiVAR_044927178H → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044928178H → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044929178H → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044930178H → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044931178H → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044932178H → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044933179H → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044934179H → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044935179H → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044936179H → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044937179H → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044938179H → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044939179H → Y in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780070Ensembl.1
Natural variantiVAR_044940180E → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044941180E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044942180E → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044943180E → K in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs879253911Ensembl.1
Natural variantiVAR_044944180E → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044945180E → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044946181R → C in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782596Ensembl.1
Natural variantiVAR_044947181R → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044948181R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs397514495Ensembl.1
Natural variantiVAR_005937181R → L in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs397514495Ensembl.1
Natural variantiVAR_044949181R → P in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044950181R → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782596Ensembl.1
Natural variantiVAR_044951182C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005938182C → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044952182C → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044953183S → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044954183S → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044955184D → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044956184D → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047169184D → N in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs72661117Ensembl.1
Natural variantiVAR_044957184D → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005939184D → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044958185S → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044959185S → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044960185S → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044961185S → N in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs150607408Ensembl.1
Natural variantiVAR_044962185S → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044963185S → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044964186D → E in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs375275361Ensembl.1
Natural variantiVAR_044965186D → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044966186D → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044967186D → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044968186D → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005940186D → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005941187G → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044969187G → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045805187G → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_044970187G → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005942187G → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs776167460Ensembl.1
Natural variantiVAR_044971187G → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044972188L → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044973188L → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044974189A → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044975189A → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005943189A → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044976189A → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044977189A → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044978189A → V in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912665Ensembl.1
Natural variantiVAR_044979190P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044980190P → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005944190P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044981190P → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876660825Ensembl.1
Natural variantiVAR_044982190P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044983190P → T in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876660254Ensembl.1
Natural variantiVAR_044984191P → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044985191P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044986191P → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587778718Ensembl.1
Natural variantiVAR_044987191P → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs868590738Ensembl.1
Natural variantiVAR_005945191P → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047170192 – 193QH → HN in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_047171192 – 193QH → HY in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_044988192Q → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044989192Q → K in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_044990192Q → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044991192Q → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005946192Q → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882002Ensembl.1
Natural variantiVAR_005947193H → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044992193H → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786201838Ensembl.1
Natural variantiVAR_044993193H → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044994193H → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044995193H → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005948193H → R in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs786201838Ensembl.1
Natural variantiVAR_044996193H → Y in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876658468Ensembl.1
Natural variantiVAR_044997194L → F in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780071Ensembl.1
Natural variantiVAR_044998194L → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044999194L → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005949194L → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005950194L → R in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045000194L → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045001195I → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047172195I → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045002195I → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045003195I → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005951195I → T in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs760043106Ensembl.1
Natural variantiVAR_045004195I → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045806195I → Y in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045005196R → G in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs397516435Ensembl.1
Natural variantiVAR_045006196R → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs483352697Ensembl.1
Natural variantiVAR_045007196R → P in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs483352697Ensembl.1
Natural variantiVAR_045008196R → Q in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs483352697Ensembl.1
Natural variantiVAR_045009196R → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045010197V → E in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045011197V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045012197V → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786204041Ensembl.1
Natural variantiVAR_045013197V → M in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786204041Ensembl.1
Natural variantiVAR_045014198E → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045015198E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005952198E → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045016198E → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045017198E → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045018199G → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045019199G → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045020199G → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045021199G → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045022200N → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045023200N → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045024200N → K in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045807200N → P in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045025200N → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045026200N → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_047173201 – 202LR → FC in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_045027201L → F in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882024Ensembl.1
Natural variantiVAR_045028201L → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045029201L → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045030202R → C in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780072Ensembl.1
Natural variantiVAR_045031202R → G in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780072Ensembl.1
Natural variantiVAR_045032202R → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587778719Ensembl.1
Natural variantiVAR_045033202R → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587778719Ensembl.1
Natural variantiVAR_045034202R → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045035202R → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047174203 – 204VE → LV in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_045036203V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045037203V → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045038203V → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045039203V → M in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882003Ensembl.1
Natural variantiVAR_045808203V → W in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045040204E → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045041204E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045042204E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045043204E → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045044204E → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045045204E → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005953205Y → C in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_005954205Y → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047175205Y → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045046205Y → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045047205Y → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045048205Y → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045049206L → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045050206L → M in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_047176207 – 208DD → EY in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_045051207D → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045052207D → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045053207D → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045054207D → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045055207D → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045056207D → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045057208D → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045058208D → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045059208D → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045809208D → I in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045060208D → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045061208D → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045062208D → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045063209R → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045064209R → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045065209R → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045066209R → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045067210N → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045068210N → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045069210N → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045070210N → K in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045071210N → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045072210N → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045073210N → Y in a familial cancer not matching LFS; germline mutation. 1
Natural variantiVAR_045074211T → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045075211T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045076211T → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045077211T → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045078211T → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045079212F → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045080212F → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045081212F → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045082212F → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045083212F → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045084213R → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045085213R → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_036506213R → P in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587778720Ensembl.1
Natural variantiVAR_005955213R → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587778720Ensembl.1
Natural variantiVAR_045086213R → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045087214H → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045088214H → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_047177214H → Q in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781386Ensembl.1
Natural variantiVAR_045089214H → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045090214H → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045091215S → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045092215S → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045093215S → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045810215S → K in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045094215S → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045095215S → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045096215S → T in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782177Ensembl.1
Natural variantiVAR_045097216V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045098216V → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045099216V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045100216V → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005956216V → M in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs730882025Ensembl.1
Natural variantiVAR_045811216V → W in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045101217V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045102217V → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045103217V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045104217V → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045105217V → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047178217V → M. Corresponds to variant dbSNP:rs35163653Ensembl.1
Natural variantiVAR_045106218V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045107218V → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045108218V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045109218V → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045110218V → M in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs878854072Ensembl.1
Natural variantiVAR_045812219P → C in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045111219P → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045112219P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045113219P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045114219P → S in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs879253894Ensembl.1
Natural variantiVAR_045115219P → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005957220Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs121912666Ensembl.1
Natural variantiVAR_045116220Y → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045117220Y → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005958220Y → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs530941076Ensembl.1
Natural variantiVAR_045118220Y → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005959220Y → S in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912666Ensembl.1
Natural variantiVAR_045119221E → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045120221E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045121221E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045122221E → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786201592Ensembl.1
Natural variantiVAR_045123221E → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045124222P → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045125222P → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs146340390Ensembl.1
Natural variantiVAR_045126222P → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045127222P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045128222P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045129222P → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047179223P → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045130223P → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs138983188Ensembl.1
Natural variantiVAR_045131223P → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs138983188Ensembl.1
Natural variantiVAR_045132223P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045133223P → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045134223P → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045135224E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045136224E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045137224E → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045138224E → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045139225V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045140225V → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045141225V → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045142225V → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045143225V → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045144225V → L in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs746504075Ensembl.1
Natural variantiVAR_045145226G → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047180226G → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045844226G → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045146226G → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045147226G → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045148227S → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045149227S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045150227S → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045151227S → T in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045152228D → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005960228D → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045153228D → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045154228D → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045155228D → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045845228D → P in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045156228D → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045157228D → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045158229C → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045846229C → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045159229C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045160229C → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045161229C → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045162230T → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005961230T → I in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045163230T → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045164230T → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045165230T → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045166231T → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045167231T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045168231T → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045169231T → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045170232I → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045171232I → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045172232I → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045173232I → S in sporadic cancers; somatic mutation; does not induce SNAI1 degradation. 1 Publication1
Natural variantiVAR_005962232I → T in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781589Ensembl.1
Natural variantiVAR_045174232I → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045175233H → D in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045176233H → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045177233H → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045178233H → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047181233H → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs879254233Ensembl.1
Natural variantiVAR_045179233H → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005963234Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780073Ensembl.1
Natural variantiVAR_045180234Y → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs864622237Ensembl.1
Natural variantiVAR_045181234Y → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005964234Y → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045847234Y → K in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045182234Y → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045848234Y → Q in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045183234Y → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047182235N → D in an adrenocortical carcinoma with no family history; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045184235N → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045185235N → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045849235N → M in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045186235N → S in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs144340710Ensembl.1
Natural variantiVAR_045187235N → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045188235N → Y in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786204145Ensembl.1
Natural variantiVAR_045189236Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045190236Y → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782289Ensembl.1
Natural variantiVAR_045191236Y → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045192236Y → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782289Ensembl.1
Natural variantiVAR_045193236Y → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045194236Y → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882026Ensembl.1
Natural variantiVAR_005965237M → I in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782664Ensembl.1
Natural variantiVAR_045195237M → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs765848205Ensembl.1
Natural variantiVAR_045196237M → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045197237M → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045198237M → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045199237M → V in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882004Ensembl.1
Natural variantiVAR_005966238C → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045200238C → G in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045850238C → H in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045201238C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045202238C → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045203238C → W in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs193920789Ensembl.1
Natural variantiVAR_005967238C → Y in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882005Ensembl.1
Natural variantiVAR_045204239N → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876660807Ensembl.1
Natural variantiVAR_045205239N → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045206239N → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045207239N → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045208239N → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045209239N → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045210239N → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045211240S → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045212240S → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005968240S → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045213240S → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045214240S → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045215240S → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045216240S → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_033036241S → A in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045217241S → C in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934573Ensembl.1
Natural variantiVAR_005969241S → F in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs28934573Ensembl.1
Natural variantiVAR_045218241S → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047183241S → T in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045219241S → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005970242C → F in sporadic cancers; somatic mutation. 2 Publications1
Natural variantiVAR_045220242C → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045221242C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045222242C → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912655Ensembl.1
Natural variantiVAR_045223242C → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045224242C → Y in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912655Ensembl.1
Natural variantiVAR_047184243 – 244MG → IC in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_047185243 – 244MG → IS in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_045225243M → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045226243M → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045227243M → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786203117Ensembl.1
Natural variantiVAR_045228243M → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045229243M → T in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882006Ensembl.1
Natural variantiVAR_045230243M → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047186244G → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045231244G → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045232244G → D in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045233244G → E in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045234244G → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045235244G → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045236244G → V in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005971245G → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005972245G → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs28934575Ensembl.1
Natural variantiVAR_005973245G → D in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912656Ensembl.1
Natural variantiVAR_045237245G → E in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045851245G → F in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045852245G → H in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045853245G → L in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045854245G → N in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045238245G → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005974245G → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28934575Ensembl.1
Natural variantiVAR_005975245G → V in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912656Ensembl.1
Natural variantiVAR_045239246M → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045240246M → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_044020246M → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs483352695Ensembl.1
Natural variantiVAR_005976246M → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780074Ensembl.1
Natural variantiVAR_005977246M → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005978246M → V in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs483352695Ensembl.1
Natural variantiVAR_047187247 – 248NR → IP in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_047188247 – 248NR → KW in sporadic cancers; somatic mutation. 2
Natural variantiVAR_045241247N → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045855247N → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_005980247N → I in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786201762Ensembl.1
Natural variantiVAR_045242247N → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045243247N → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047189247N → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045244247N → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045245248R → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_005981248R → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005982248R → L in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs11540652Ensembl.1
Natural variantiVAR_045246248R → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs11540652Ensembl.1
Natural variantiVAR_005983248R → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. 4 PublicationsCorresponds to variant dbSNP:rs11540652Ensembl.1
Natural variantiVAR_005984248R → W in LFS; germline mutation and in sporadic cancers; somatic mutation. 3 PublicationsCorresponds to variant dbSNP:rs121912651Ensembl.1
Natural variantiVAR_047190249 – 250RP → SA in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_047191249 – 250RP → SS in sporadic cancers; somatic mutation. 2
Natural variantiVAR_005985249R → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045247249R → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045248249R → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782329Ensembl.1
Natural variantiVAR_033037249R → M in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045856249R → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_005986249R → S in sporadic cancers; somatic mutation; does not induce SNAI1 degradation. 3 PublicationsCorresponds to variant dbSNP:rs28934571Ensembl.1
Natural variantiVAR_045249249R → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045250249R → W in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782082Ensembl.1
Natural variantiVAR_045251250P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045857250P → F in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045252250P → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047192250P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045858250P → N in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045253250P → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045254250P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045255250P → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045256251I → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045257251I → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882007Ensembl.1
Natural variantiVAR_045258251I → M in LFS; germline mutation. 1
Natural variantiVAR_005987251I → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_033038251I → S in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs730882027Ensembl.1
Natural variantiVAR_045259251I → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045260251I → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045261252L → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045262252L → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045263252L → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005988252L → P in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912653Ensembl.1
Natural variantiVAR_045264252L → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045265253T → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045266253T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045267253T → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047193253T → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045268253T → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045859254I → D in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045269254I → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045270254I → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045271254I → M in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_017908254I → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045272254I → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_017909254I → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045273254I → V in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs746601313Ensembl.1
Natural variantiVAR_045274255I → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045275255I → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045276255I → N in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876659675Ensembl.1
Natural variantiVAR_045277255I → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045278255I → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045279255I → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045280256T → I in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045281256T → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045282256T → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045283256T → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005989257L → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045284257L → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934577Ensembl.1
Natural variantiVAR_045285257L → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934577Ensembl.1
Natural variantiVAR_045286257L → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045287258E → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005990258E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045288258E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005991258E → K in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912652Ensembl.1
Natural variantiVAR_045860258E → L in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045289258E → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045290258E → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047194259D → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045291259D → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045292259D → G in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs745425759Ensembl.1
Natural variantiVAR_045293259D → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045294259D → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045861259D → P in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045862259D → S in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045295259D → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_033039259D → Y in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045296260S → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045297260S → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045298260S → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045299260S → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045300260S → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045301260S → Y in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876658916Ensembl.1
Natural variantiVAR_045302261S → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045303261S → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045304261S → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045305261S → N in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045306261S → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047195262 – 263GN → PD in a sporadic cancer; somatic mutation. 2
Natural variantiVAR_045307262G → C in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs200579969Ensembl.1
Natural variantiVAR_047196262G → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045863262G → H in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045308262G → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs200579969Ensembl.1
Natural variantiVAR_045309262G → V in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045310263N → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs72661119Ensembl.1
Natural variantiVAR_045311263N → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045312263N → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045313263N → K in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045314263N → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045315264L → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045316264L → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045317264L → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045318264L → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045319264L → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045320265L → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045321265L → P in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs879253942Ensembl.1
Natural variantiVAR_045322265L → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047197265L → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045323266G → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045324266G → E in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs193920774Ensembl.1
Natural variantiVAR_045325266G → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045326266G → V in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs193920774Ensembl.1
Natural variantiVAR_045327267R → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045328267R → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045329267R → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045330267R → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780075Ensembl.1
Natural variantiVAR_036507267R → W in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs55832599Ensembl.1
Natural variantiVAR_045864268N → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045331268N → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045332268N → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045333268N → K in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045334268N → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045335268N → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045336269S → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045337269S → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047198269S → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045338269S → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045339269S → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045340269S → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045341270F → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045342270F → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045343270F → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045344270F → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045345270F → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045346270F → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045347271E → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045348271E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045349271E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_036508271E → K in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045865271E → P in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045350271E → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045866271E → R in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_047199271E → V in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045351272V → A in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045352272V → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045353272V → G in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876660333Ensembl.1
Natural variantiVAR_005992272V → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912657Ensembl.1
Natural variantiVAR_045354272V → M in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912657Ensembl.1
Natural variantiVAR_005993273R → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 4 PublicationsCorresponds to variant dbSNP:rs121913343Ensembl.1
Natural variantiVAR_005994273R → G in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005995273R → H in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation. 9 PublicationsCorresponds to variant dbSNP:rs28934576Ensembl.1
Natural variantiVAR_036509273R → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs28934576Ensembl.1
Natural variantiVAR_045867273R → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045355273R → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934576Ensembl.1
Natural variantiVAR_045356273R → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045357273R → S in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121913343Ensembl.1
Natural variantiVAR_045868273R → Y in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045358274V → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045359274V → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005997274V → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047200274V → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045360274V → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045361274V → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045362275C → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045363275C → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045364275C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045365275C → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005999275C → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_005998275C → Y in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs863224451Ensembl.1
Natural variantiVAR_045366276A → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786202082Ensembl.1
Natural variantiVAR_045367276A → G in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs786202082Ensembl.1
Natural variantiVAR_045368276A → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045369276A → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045370276A → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045371276A → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045372277C → F in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs763098116Ensembl.1
Natural variantiVAR_006000277C → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045373277C → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045374277C → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047201277C → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045375277C → Y in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs763098116Ensembl.1
Natural variantiVAR_006001278P → A in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs17849781Ensembl.1
Natural variantiVAR_045869278P → F in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_006002278P → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006003278P → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs876659802Ensembl.1
Natural variantiVAR_045376278P → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006004278P → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 3 Publications1
Natural variantiVAR_006005278P → T in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006006279G → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045377279G → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045378279G → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045379279G → W in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045380280R → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006008280R → I in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912660Ensembl.1
Natural variantiVAR_006007280R → K in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; no effect on interaction with CCAR2. 2 Publications1
Natural variantiVAR_045381280R → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045382280R → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006009280R → T in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912660Ensembl.1
Natural variantiVAR_047203281 – 282DR → EW in sporadic cancers; somatic mutation. 2
Natural variantiVAR_006010281D → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006011281D → E in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_006012281D → G in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781525Ensembl.1
Natural variantiVAR_006013281D → H in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_047202281D → N in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs764146326Ensembl.1
Natural variantiVAR_045870281D → R in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_006014281D → V in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587781525Ensembl.1
Natural variantiVAR_045383281D → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045384282R → G in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs28934574Ensembl.1
Natural variantiVAR_045385282R → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_006015282R → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs730882008Ensembl.1
Natural variantiVAR_045386282R → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045387282R → Q in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs730882008Ensembl.1
Natural variantiVAR_006016282R → W in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation. 2 PublicationsCorresponds to variant dbSNP:rs28934574Ensembl.1
Natural variantiVAR_006017283R → C in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs149633775Ensembl.1
Natural variantiVAR_006018283R → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006019283R → H in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs371409680Ensembl.1
Natural variantiVAR_045388283R → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006020283R → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045389283R → S in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs149633775Ensembl.1
Natural variantiVAR_006021284T → A in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045390284T → I in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs863224685Ensembl.1
Natural variantiVAR_045391284T → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006022284T → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045392285E → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045393285E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045394285E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006023285E → K in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs112431538Ensembl.1
Natural variantiVAR_006024285E → Q in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006025285E → V in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912667Ensembl.1
Natural variantiVAR_006026286E → A in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006027286E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006028286E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006029286E → K in sporadic cancers; somatic mutation. 2 PublicationsCorresponds to variant dbSNP:rs786201059Ensembl.1
Natural variantiVAR_045871286E → L in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_006030286E → Q in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045395286E → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047204287E → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045396287E → D in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs748891343Ensembl.1
Natural variantiVAR_045397287E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045398287E → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782006Ensembl.1
Natural variantiVAR_045399287E → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045400288N → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045401288N → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045402288N → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045403288N → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045404288N → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045405289L → F in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045406289L → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045407289L → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045408289L → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045409289L → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045410290R → C in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs770374782Ensembl.1
Natural variantiVAR_045411290R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs55819519Ensembl.1
Natural variantiVAR_045412290R → L in LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045413291K → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045414291K → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045415291K → N in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs372613518Ensembl.1
Natural variantiVAR_047205291K → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045416291K → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs781490101Ensembl.1
Natural variantiVAR_045417291K → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045418292K → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045872292K → G in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_015819292K → I in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912663Ensembl.1
Natural variantiVAR_045419292K → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045420292K → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045421292K → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045422292K → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045423293G → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045424293G → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780076Ensembl.1
Natural variantiVAR_045425293G → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045426293G → W in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587780076Ensembl.1
Natural variantiVAR_045427294E → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045428294E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045429294E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047206294E → K in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045430294E → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045431294E → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045432295P → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045433295P → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs751713111Ensembl.1
Natural variantiVAR_045434295P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045435295P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045873296H → C in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045436296H → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047207296H → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045437296H → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006031296H → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045438296H → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045439296H → R in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs483352696Ensembl.1
Natural variantiVAR_045440296H → Y in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs672601296Ensembl.1
Natural variantiVAR_045441297H → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045442297H → N in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045443297H → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045444297H → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876659477Ensembl.1
Natural variantiVAR_045445297H → Y in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045446298E → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045447298E → D in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045448298E → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs201744589Ensembl.1
Natural variantiVAR_045449298E → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045450298E → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045451299L → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045452299L → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045453299L → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045454299L → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045455300P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045456300P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006032300P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045457300P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045458301P → A in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006033301P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045459301P → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045460301P → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047208301P → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045461302G → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_006034302G → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045462302G → R in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs863224686Ensembl.1
Natural variantiVAR_006035302G → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045463303S → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045464303S → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045465303S → N in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs876658714Ensembl.1
Natural variantiVAR_045466303S → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045467304T → A in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs587782654Ensembl.1
Natural variantiVAR_045468304T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045469304T → N in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_047209304T → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045470305K → E in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045471305K → M in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045472305K → N in sporadic cancers; somatic mutation; loss of nuclear localization. 1 Publication1
Natural variantiVAR_045473305K → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045474305K → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045475306R → P in LFS; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_006036306R → Q in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045476307A → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045477307A → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006037307A → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045478308L → M in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045479308L → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045480309P → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_006038309P → S in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 Publication1
Natural variantiVAR_045481310N → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045482310N → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045483311N → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045484311N → K in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045485311N → S in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs56184981Ensembl.1
Natural variantiVAR_045486311N → T in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs56184981Ensembl.1
Natural variantiVAR_045487312T → I in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045488312T → S in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs145151284Ensembl.1
Natural variantiVAR_045489313S → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045490313S → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045491313S → N in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045492313S → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045493314S → F in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs751440465Ensembl.1
Natural variantiVAR_045494315S → C in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045495315S → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045496315S → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045497316P → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045498316P → T in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs772773208Ensembl.1
Natural variantiVAR_045499317Q → H in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045500317Q → K in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs764735889Ensembl.1
Natural variantiVAR_047210317Q → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045501317Q → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045502317Q → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045503318P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045504319K → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045505319K → N in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045506319K → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045507320K → N in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045508321K → E in kidney cancer; germline mutation. 1
Natural variantiVAR_045509321K → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045510322P → L in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045511322P → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045874323L → G in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045512323L → M in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045513323L → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045514323L → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_047211323L → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045515324D → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045875324D → S in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions. 1
Natural variantiVAR_045516324D → Y in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045517325G → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045518325G → E in sporadic cancers; somatic mutation. 1
Natural variantiVAR_006039325G → V in LFS; germline mutation. 1 PublicationCorresponds to variant dbSNP:rs28934271Ensembl.1
Natural variantiVAR_045519326E → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045520327Y → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045521327Y → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045522328F → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045523328F → S in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045524328F → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045525329T → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045526329T → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045527330L → H in sporadic cancers; somatic mutation. 1
Natural variantiVAR_047212330L → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045528330L → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045529331Q → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs11575996Ensembl.1
Natural variantiVAR_045530331Q → P in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045531331Q → R in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045532332I → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_006040334G → V in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045533334G → W in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045534335R → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045535335R → H in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs771939956Ensembl.1
Natural variantiVAR_045536335R → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_006041337R → C in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587782529Ensembl.1
Natural variantiVAR_035016337R → H in LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs121912664Ensembl.1
Natural variantiVAR_045537337R → L in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912664Ensembl.1
Natural variantiVAR_045538337R → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs121912664Ensembl.1
Natural variantiVAR_045539338F → I in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045540338F → L in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs150293825Ensembl.1
Natural variantiVAR_022316339E → K in a sporadic cancer; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs17882252Ensembl.1
Natural variantiVAR_045541339E → Q in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs17882252Ensembl.1
Natural variantiVAR_045542341F → C in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045543342R → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045544342R → P in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs375338359Ensembl.1
Natural variantiVAR_047213342R → Q in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs375338359Ensembl.1
Natural variantiVAR_045545343E → G in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045546344L → P in LFS; germline mutation and in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs121912662Ensembl.1
Natural variantiVAR_045547344L → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045548346E → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045549347A → G in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045550347A → T in sporadic cancers; somatic mutation. 1
Natural variantiVAR_045551348L → F in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045552348L → S in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045553349E → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045554352D → H in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045555353A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045556354Q → E in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045557354Q → K in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs755394212Ensembl.1
Natural variantiVAR_047214354Q → R in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs752142489Ensembl.1
Natural variantiVAR_045558356G → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045559356G → W in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045560358E → D in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045561358E → K in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs587782237Ensembl.1
Natural variantiVAR_045562360G → A. Corresponds to variant dbSNP:rs35993958Ensembl.1
Natural variantiVAR_045563360G → V in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs35993958Ensembl.1
Natural variantiVAR_045564363R → K in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs876660285Ensembl.1
Natural variantiVAR_045565364A → P in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045566364A → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045567364A → V in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_047215365H → R in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045568365H → Y in a familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs267605075Ensembl.1
Natural variantiVAR_022317366S → A in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs17881470Ensembl.1
Natural variantiVAR_045569370K → Q in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045570376S → A in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045571376S → T in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045572379R → H in sporadic cancers; somatic mutation. Corresponds to variant dbSNP:rs863224682Ensembl.1
Natural variantiVAR_045573385F → L in a sporadic cancer; somatic mutation. 1
Natural variantiVAR_045574389G → W in a sporadic cancer; somatic mutation. Corresponds to variant dbSNP:rs587783064Ensembl.1
Natural variantiVAR_045575392S → L in a sporadic cancer; somatic mutation. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0408331 – 132Missing in isoform 7, isoform 8 and isoform 9. 1 PublicationAdd BLAST132
Alternative sequenceiVSP_0408321 – 39Missing in isoform 4, isoform 5 and isoform 6. CuratedAdd BLAST39
Alternative sequenceiVSP_040560332 – 346IRGRE…RELNE → MLLDLRWCYFLINSS in isoform 3, isoform 6 and isoform 9. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_006535332 – 341IRGRERFEMF → DQTSFQKENC in isoform 2, isoform 5 and isoform 8. 1 Publication10
Alternative sequenceiVSP_006536342 – 393Missing in isoform 2, isoform 5 and isoform 8. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_040561347 – 393Missing in isoform 3, isoform 6 and isoform 9. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X02469 mRNA. Translation: CAA26306.1.
M13121
, M13112, M13113, M13114, M13115, M13116, M13117, M13118, M13119, M13120 Genomic DNA. Translation: AAA59987.1.
K03199 mRNA. Translation: AAA59989.1.
M14694 mRNA. Translation: AAA61211.1.
M14695 mRNA. Translation: AAA61212.1.
M22898
, M22882, M22883, M22884, M22887, M22888, M22894, M22895, M22896, M22897 Genomic DNA. Translation: AAA59988.1.
X01405 mRNA. Translation: CAA25652.1.
X60011 mRNA. Translation: CAA42626.1.
X60012 mRNA. Translation: CAA42627.1. Different termination.
X60013 mRNA. Translation: CAA42628.1.
X60014 mRNA. Translation: CAA42629.1.
X60015 mRNA. Translation: CAA42630.1.
X60016 mRNA. Translation: CAA42631.1.
X60017 mRNA. Translation: CAA42632.1.
X60018 mRNA. Translation: CAA42633.1.
X60019 mRNA. Translation: CAA42634.1.
X60020 mRNA. Translation: CAA42635.1.
AF307851 mRNA. Translation: AAG28785.1.
DQ186648 mRNA. Translation: ABA29753.1.
DQ186649 mRNA. Translation: ABA29754.1.
DQ186650 mRNA. Translation: ABA29755.1.
DQ186651 mRNA. Translation: ABA29756.1.
DQ186652 mRNA. Translation: ABA29757.1.
DQ191317 mRNA. Translation: ABB80262.1.
DQ286964 mRNA. Translation: ABB80266.1.
X54156 Genomic DNA. Translation: CAA38095.1.
U94788 Genomic DNA. Translation: AAC12971.1.
AY838896 Genomic DNA. Translation: AAV80424.1.
AF135121, AF135120 Genomic DNA. Translation: AAD28535.1.
AF136271, AF136270 Genomic DNA. Translation: AAD28628.1.
AB082923 mRNA. Translation: BAC16799.1.
AK312568 mRNA. Translation: BAG35463.1.
AC007421 Genomic DNA. No translation available.
AC087388 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW90143.1.
CH471108 Genomic DNA. Translation: EAW90144.1.
BC003596 mRNA. Translation: AAH03596.1.
AY429684 mRNA. Translation: AAR10356.1.
AY390341 Genomic DNA. Translation: AAQ90158.1.
AY359814 Genomic DNA. Translation: AAR13239.1.
U63714 Genomic DNA. Translation: AAB39322.1.
AF209136 Genomic DNA. Translation: AAF36362.1.
AF209128 Genomic DNA. Translation: AAF36354.1.
AF209129 Genomic DNA. Translation: AAF36355.1.
AF209130 Genomic DNA. Translation: AAF36356.1.
AF209131 Genomic DNA. Translation: AAF36357.1.
AF209132 Genomic DNA. Translation: AAF36358.1.
AF209133 Genomic DNA. Translation: AAF36359.1.
AF209134 Genomic DNA. Translation: AAF36360.1.
AF209135 Genomic DNA. Translation: AAF36361.1.
AF209148 Genomic DNA. Translation: AAF36374.1.
AF209149 Genomic DNA. Translation: AAF36375.1.
AF209150 Genomic DNA. Translation: AAF36376.1.
AF209151 Genomic DNA. Translation: AAF36377.1.
AF209152 Genomic DNA. Translation: AAF36378.1.
AF209153 Genomic DNA. Translation: AAF36379.1.
AF209154 Genomic DNA. Translation: AAF36380.1.
AF209155 Genomic DNA. Translation: AAF36381.1.
AF209156 Genomic DNA. Translation: AAF36382.1.
AF210309, AF210308 Genomic DNA. Translation: AAF63442.1.
AF210310 Genomic DNA. Translation: AAF63443.1.
AF240684 Genomic DNA. Translation: AAK76358.1.
AF240685 Genomic DNA. Translation: AAK76359.1.
AY270155 Genomic DNA. Translation: AAP30003.1.
CCDSiCCDS11118.1. [P04637-1]
CCDS45605.1. [P04637-3]
CCDS45606.1. [P04637-2]
CCDS73966.1. [P04637-7]
CCDS73967.1. [P04637-9]
CCDS73968.1. [P04637-8]
CCDS73969.1. [P04637-4]
CCDS73970.1. [P04637-6]
CCDS73971.1. [P04637-5]
PIRiA25224. DNHU53.
RefSeqiNP_000537.3. NM_000546.5. [P04637-1]
NP_001119584.1. NM_001126112.2. [P04637-1]
NP_001119585.1. NM_001126113.2. [P04637-3]
NP_001119586.1. NM_001126114.2. [P04637-2]
NP_001119587.1. NM_001126115.1. [P04637-7]
NP_001119588.1. NM_001126116.1. [P04637-8]
NP_001119589.1. NM_001126117.1. [P04637-9]
NP_001119590.1. NM_001126118.1. [P04637-4]
NP_001263624.1. NM_001276695.1. [P04637-6]
NP_001263625.1. NM_001276696.1. [P04637-5]
NP_001263626.1. NM_001276697.1.
NP_001263627.1. NM_001276698.1.
NP_001263628.1. NM_001276699.1.
NP_001263689.1. NM_001276760.1. [P04637-4]
NP_001263690.1. NM_001276761.1. [P04637-4]
UniGeneiHs.437460.
Hs.740601.

Genome annotation databases

EnsembliENST00000269305; ENSP00000269305; ENSG00000141510. [P04637-1]
ENST00000420246; ENSP00000391127; ENSG00000141510. [P04637-2]
ENST00000445888; ENSP00000391478; ENSG00000141510. [P04637-1]
ENST00000455263; ENSP00000398846; ENSG00000141510. [P04637-3]
ENST00000504290; ENSP00000484409; ENSG00000141510. [P04637-9]
ENST00000504937; ENSP00000481179; ENSG00000141510. [P04637-7]
ENST00000510385; ENSP00000478499; ENSG00000141510. [P04637-8]
ENST00000610292; ENSP00000478219; ENSG00000141510. [P04637-4]
ENST00000610538; ENSP00000480868; ENSG00000141510. [P04637-6]
ENST00000617185; ENSP00000482258; ENSG00000141510. [P04637-2]
ENST00000619485; ENSP00000482537; ENSG00000141510. [P04637-4]
ENST00000620739; ENSP00000481638; ENSG00000141510. [P04637-4]
ENST00000622645; ENSP00000482222; ENSG00000141510. [P04637-5]
GeneIDi7157.
KEGGihsa:7157.
UCSCiuc002gij.4. human. [P04637-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiP53_HUMAN
AccessioniPrimary (citable) accession number: P04637
Secondary accession number(s): Q15086
, Q15087, Q15088, Q16535, Q16807, Q16808, Q16809, Q16810, Q16811, Q16848, Q2XN98, Q3LRW1, Q3LRW2, Q3LRW3, Q3LRW4, Q3LRW5, Q86UG1, Q8J016, Q99659, Q9BTM4, Q9HAQ8, Q9NP68, Q9NPJ2, Q9NZD0, Q9UBI2, Q9UQ61
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: November 24, 2009
Last modified: July 5, 2017
This is version 256 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families