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P04637 (P53_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 222. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
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Names and origin

Protein namesRecommended name:
Cellular tumor antigen p53
Alternative name(s):
Antigen NY-CO-13
Phosphoprotein p53
Tumor suppressor p53
Gene names
Name:TP53
Synonyms:P53
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length393 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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-mediatedapoptosis. Ref.34 Ref.42 Ref.61 Ref.66 Ref.70 Ref.93 Ref.95 Ref.107 Ref.110 Ref.122 Ref.125

Cofactor

Binds 1 zinc ion per subunit.

Subunit structure

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 (via RING-type zinc finger); involved in p53/TP53 ubiquitination. Ref.8 Ref.34 Ref.38 Ref.42 Ref.43 Ref.54 Ref.55 Ref.56 Ref.57 Ref.58 Ref.59 Ref.61 Ref.62 Ref.64 Ref.65 Ref.66 Ref.67 Ref.68 Ref.72 Ref.73 Ref.74 Ref.75 Ref.76 Ref.78 Ref.80 Ref.81 Ref.83 Ref.86 Ref.87 Ref.88 Ref.89 Ref.92 Ref.93 Ref.94 Ref.99 Ref.101 Ref.103 Ref.105 Ref.106 Ref.107 Ref.112 Ref.113 Ref.116 Ref.117 Ref.119 Ref.121 Ref.122 Ref.124 Ref.125 Ref.126 Ref.127 Ref.129 Ref.137 Ref.138 Ref.139 Ref.140 Ref.141 Ref.151

Subcellular location

Cytoplasm. Nucleus. NucleusPML body. Endoplasmic reticulum. Mitochondrion matrix. Note: Interaction with BANP promotes nuclear localization. Recruited into PML bodies together with CHEK2. Translocates to mitochondria upon oxidative stress. Ref.9 Ref.38 Ref.42 Ref.51 Ref.61 Ref.70 Ref.74 Ref.87 Ref.94 Ref.100 Ref.113 Ref.125

Isoform 1: Nucleus. Cytoplasm. Note: Predominantly nuclear but localizes to the cytoplasm when expressed with isoform 4. Ref.9 Ref.38 Ref.42 Ref.51 Ref.61 Ref.70 Ref.74 Ref.87 Ref.94 Ref.100 Ref.113 Ref.125

Isoform 2: Nucleus. Cytoplasm. Note: Localized mainly in the nucleus with minor staining in the cytoplasm. Ref.9 Ref.38 Ref.42 Ref.51 Ref.61 Ref.70 Ref.74 Ref.87 Ref.94 Ref.100 Ref.113 Ref.125

Isoform 3: Nucleus. Cytoplasm. Note: Localized in the nucleus in most cells but found in the cytoplasm in some cells. Ref.9 Ref.38 Ref.42 Ref.51 Ref.61 Ref.70 Ref.74 Ref.87 Ref.94 Ref.100 Ref.113 Ref.125

Isoform 4: Nucleus. Cytoplasm. Note: Predominantly nuclear but translocates to the cytoplasm following cell stress. Ref.9 Ref.38 Ref.42 Ref.51 Ref.61 Ref.70 Ref.74 Ref.87 Ref.94 Ref.100 Ref.113 Ref.125

Isoform 7: Nucleus. Cytoplasm. Note: Localized mainly in the nucleus with minor staining in the cytoplasm. Ref.9 Ref.38 Ref.42 Ref.51 Ref.61 Ref.70 Ref.74 Ref.87 Ref.94 Ref.100 Ref.113 Ref.125

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. Ref.9 Ref.38 Ref.42 Ref.51 Ref.61 Ref.70 Ref.74 Ref.87 Ref.94 Ref.100 Ref.113 Ref.125

Isoform 9: Cytoplasm Ref.9 Ref.38 Ref.42 Ref.51 Ref.61 Ref.70 Ref.74 Ref.87 Ref.94 Ref.100 Ref.113 Ref.125.

Tissue specificity

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. Ref.9

Induction

Up-regulated in response to DNA damage. Isoform 2 is not induced in tumor cells in response to stress. Ref.9 Ref.38

Domain

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. Ref.48 Ref.91

Post-translational modification

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. Ref.40 Ref.47 Ref.60 Ref.117 Ref.129

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 (Ref.124). 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. Ref.28 Ref.29 Ref.30 Ref.33 Ref.36 Ref.38 Ref.41 Ref.44 Ref.46 Ref.49 Ref.50 Ref.52 Ref.53 Ref.57 Ref.58 Ref.61 Ref.68 Ref.72 Ref.74 Ref.77 Ref.78 Ref.79 Ref.81 Ref.85 Ref.90 Ref.94 Ref.95 Ref.101 Ref.111 Ref.116 Ref.122 Ref.124 Ref.126

Dephosphorylated by PP2A-PPP2R5C holoenzyme at Thr-55. SV40 small T antigen inhibits the dephosphorylation by the AC form of PP2A. Ref.28 Ref.29 Ref.30 Ref.33 Ref.36 Ref.38 Ref.41 Ref.44 Ref.46 Ref.49 Ref.50 Ref.52 Ref.53 Ref.57 Ref.58 Ref.61 Ref.68 Ref.72 Ref.74 Ref.77 Ref.78 Ref.79 Ref.81 Ref.85 Ref.90 Ref.94 Ref.95 Ref.101 Ref.111 Ref.116 Ref.122 Ref.124 Ref.126

May be O-glycosylated in the C-terminal basic region. Studied in EB-1 cell line. Ref.32

Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal degradation. 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. Ubiquitinated by MKRN1 at Lys-291 and Lys-292, which leads to proteasomal degradation. Deubiquitinated by USP10, leading to its stabilization. Ubiquitinated by TRIM24 and RFFL, which leads to proteasomal degradation. Ubiquitination by TOPORS induces degradation. Deubiquitination by USP7, leading to stabilization. Isoform 4 is monoubiquitinated in an MDM2-independent manner. Ref.39 Ref.61 Ref.69 Ref.70 Ref.87 Ref.100 Ref.103 Ref.104 Ref.107 Ref.109 Ref.113 Ref.118

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 SETD8, 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. Ref.71 Ref.82 Ref.84 Ref.96 Ref.97 Ref.114 Ref.128 Ref.141

Sumoylated with SUMO1. Sumoylated at Lys-386 by UBC9. Ref.35 Ref.51 Ref.126

Involvement in disease

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) [MIM:133239]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Li-Fraumeni syndrome (LFS) [MIM:151623]: Autosomal 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.38 Ref.153 Ref.154 Ref.155 Ref.156 Ref.157 Ref.176 Ref.178 Ref.183 Ref.184

Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]: A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes.
Note: The gene represented in this entry is involved in disease pathogenesis.

Lung cancer (LNCR) [MIM:211980]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Papilloma of choroid plexus (CPP) [MIM:260500]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.187

Adrenocortical carcinoma (ADCC) [MIM:202300]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.186

Basal cell carcinoma 7 (BCC7) [MIM:614740]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.123

Sequence similarities

Belongs to the p53 family.

Ontologies

Keywords
   Biological processApoptosis
Cell cycle
Host-virus interaction
Necrosis
Transcription
Transcription regulation
   Cellular componentCytoplasm
Endoplasmic reticulum
Mitochondrion
Nucleus
   Coding sequence diversityAlternative promoter usage
Alternative splicing
Polymorphism
   DiseaseDisease mutation
Li-Fraumeni syndrome
Tumor suppressor
   LigandDNA-binding
Metal-binding
Zinc
   Molecular functionActivator
   PTMAcetylation
Glycoprotein
Isopeptide bond
Methylation
Phosphoprotein
Ubl conjugation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processB cell lineage commitment

Inferred from electronic annotation. Source: Ensembl

DNA damage response, signal transduction by p53 class mediator

Inferred from direct assay PubMed 15149599. Source: BHF-UCL

DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest

Traceable author statement. Source: Reactome

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

Inferred from mutant phenotype PubMed 7958916. Source: BHF-UCL

DNA strand renaturation

Inferred from direct assay PubMed 8183576. Source: UniProtKB

ER overload response

Inferred from direct assay PubMed 14744935. Source: MGI

Notch signaling pathway

Traceable author statement. Source: Reactome

Ras protein signal transduction

Inferred from expression pattern PubMed 9054499. Source: BHF-UCL

T cell differentiation in thymus

Inferred from electronic annotation. Source: Ensembl

T cell lineage commitment

Inferred from electronic annotation. Source: Ensembl

T cell proliferation involved in immune response

Inferred from electronic annotation. Source: Ensembl

apoptotic process

Traceable author statement. Source: Reactome

base-excision repair

Traceable author statement PubMed 15116721. Source: UniProtKB

blood coagulation

Traceable author statement. Source: Reactome

cell aging

Inferred from mutant phenotype PubMed 12080348. Source: UniProtKB

cell cycle arrest

Inferred from mutant phenotype PubMed 10962037. Source: UniProtKB

cell differentiation

Traceable author statement PubMed 10065150. Source: UniProtKB

cell proliferation

Traceable author statement PubMed 10065150. Source: UniProtKB

cellular protein localization

Inferred from direct assay Ref.70. Source: UniProtKB

cellular response to DNA damage stimulus

Inferred from direct assay PubMed 17938203. Source: UniProtKB

cellular response to UV

Inferred from Biological aspect of Ancestor. Source: RefGenome

cellular response to drug

Inferred from expression pattern PubMed 20810912. Source: UniProtKB

cellular response to glucose starvation

Inferred from direct assay PubMed 21471221. Source: UniProtKB

cellular response to hypoxia

Inferred from expression pattern PubMed 20810912. Source: UniProtKB

cellular response to ionizing radiation

Inferred from mutant phenotype PubMed 20160708. Source: BHF-UCL

central nervous system development

Inferred from electronic annotation. Source: Ensembl

chromatin assembly

Inferred from direct assay Ref.73. Source: UniProtKB

determination of adult lifespan

Inferred from sequence or structural similarity. Source: BHF-UCL

double-strand break repair

Inferred from electronic annotation. Source: Ensembl

embryonic organ development

Inferred from electronic annotation. Source: Ensembl

gastrulation

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

intrinsic apoptotic signaling pathway

Traceable author statement PubMed 16462759. Source: HGNC

intrinsic apoptotic signaling pathway by p53 class mediator

Inferred from mutant phenotype Ref.73. Source: UniProtKB

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

Inferred from direct assay PubMed 17403783. Source: UniProtKB

mitotic G1 DNA damage checkpoint

Inferred from mutant phenotype PubMed 7958916. Source: BHF-UCL

mitotic cell cycle arrest

Inferred from electronic annotation. Source: Ensembl

multicellular organism growth

Inferred from electronic annotation. Source: Ensembl

multicellular organismal development

Inferred from mutant phenotype PubMed 10065150. Source: UniProtKB

negative regulation of DNA replication

Inferred from electronic annotation. Source: Ensembl

negative regulation of apoptotic process

Inferred from direct assay Ref.9. Source: UniProtKB

negative regulation of cell growth

Inferred from mutant phenotype PubMed 8986812. Source: UniProtKB

negative regulation of cell proliferation

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of fibroblast proliferation

Inferred from mutant phenotype PubMed 10962037. Source: UniProtKB

negative regulation of helicase activity

Traceable author statement PubMed 7663514. Source: UniProtKB

negative regulation of macromitophagy

Inferred from electronic annotation. Source: Ensembl

negative regulation of neuroblast proliferation

Inferred from electronic annotation. Source: Ensembl

negative regulation of reactive oxygen species metabolic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.70. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from sequence or structural similarity PubMed 19749791. Source: BHF-UCL

negative regulation of transforming growth factor beta receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

neuron apoptotic process

Inferred from electronic annotation. Source: Ensembl

nucleotide-excision repair

Inferred from mutant phenotype PubMed 7663514. Source: UniProtKB

oligodendrocyte apoptotic process

Inferred from direct assay PubMed 7720704. Source: UniProtKB

oxidative stress-induced premature senescence

Inferred from mutant phenotype PubMed 19951988. Source: BHF-UCL

positive regulation of apoptotic process

Inferred from direct assay PubMed 12667443Ref.122. Source: UniProtKB

positive regulation of cardiac muscle cell apoptotic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell aging

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell cycle arrest

Inferred from mutant phenotype PubMed 21471221. Source: UniProtKB

positive regulation of histone deacetylation

Inferred from Biological aspect of Ancestor. Source: RefGenome

positive regulation of intrinsic apoptotic signaling pathway

Inferred from mutant phenotype PubMed 14963330. Source: UniProtKB

positive regulation of neuron apoptotic process

Inferred from Biological aspect of Ancestor. Source: RefGenome

positive regulation of peptidyl-tyrosine phosphorylation

Inferred from sequence or structural similarity PubMed 19749791. Source: BHF-UCL

positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway

Traceable author statement. Source: Reactome

positive regulation of protein oligomerization

Inferred from direct assay PubMed 12667443. Source: UniProtKB

positive regulation of reactive oxygen species metabolic process

Inferred from mutant phenotype PubMed 20160708. Source: BHF-UCL

positive regulation of release of cytochrome c from mitochondria

Inferred from direct assay PubMed 12667443PubMed 14963330. Source: UniProtKB

positive regulation of thymocyte apoptotic process

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.122Ref.9. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay Ref.73PubMed 17403783. Source: UniProtKB

protein complex assembly

Inferred from direct assay PubMed 12915590. Source: UniProtKB

protein import into nucleus, translocation

Inferred from electronic annotation. Source: Ensembl

protein localization

Inferred from direct assay PubMed 16507995. Source: UniProtKB

protein tetramerization

Traceable author statement PubMed 15116721. Source: UniProtKB

rRNA transcription

Inferred from electronic annotation. Source: Ensembl

regulation of apoptotic process

Inferred from direct assay PubMed 14744935. Source: MGI

regulation of mitochondrial membrane permeability

Traceable author statement PubMed 15116721. Source: UniProtKB

regulation of mitochondrial membrane permeability involved in apoptotic process

Inferred from electronic annotation. Source: Ensembl

regulation of tissue remodeling

Inferred from electronic annotation. Source: Ensembl

regulation of transcription, DNA-templated

Inferred from direct assay PubMed 7587074. Source: UniProtKB

release of cytochrome c from mitochondria

Inferred from electronic annotation. Source: Ensembl

replicative senescence

Inferred from mutant phenotype PubMed 19951988. Source: BHF-UCL

response to X-ray

Inferred from Biological aspect of Ancestor. Source: RefGenome

response to antibiotic

Inferred from expression pattern PubMed 20810912. Source: UniProtKB

response to gamma radiation

Inferred from mutant phenotype PubMed 7958916. Source: BHF-UCL

response to ischemia

Inferred from electronic annotation. Source: Ensembl

response to salt stress

Inferred from electronic annotation. Source: Ensembl

somitogenesis

Inferred from electronic annotation. Source: Ensembl

transforming growth factor beta receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

viral process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentPML body

Inferred from direct assay PubMed 22869143. Source: UniProtKB

chromatin

Inferred from Biological aspect of Ancestor. Source: RefGenome

cytoplasm

Inferred from direct assay Ref.9Ref.109PubMed 20810912PubMed 7720704Ref.70. Source: UniProtKB

cytosol

Inferred from direct assay PubMed 14963330. Source: UniProtKB

endoplasmic reticulum

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrial matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrion

Inferred from direct assay PubMed 12667443. Source: UniProtKB

nuclear chromatin

Inferred from direct assay PubMed 15710329Ref.96PubMed 22521434. Source: BHF-UCL

nuclear matrix

Inferred from direct assay PubMed 11080164. Source: UniProtKB

nucleolus

Inferred from direct assay PubMed 12080348. Source: UniProtKB

nucleoplasm

Inferred from direct assay PubMed 11080164PubMed 12915590. Source: UniProtKB

nucleus

Inferred from direct assay PubMed 14963330Ref.73PubMed 16507995PubMed 17403783PubMed 19234109Ref.109PubMed 20810912PubMed 7720704Ref.9Ref.70. Source: UniProtKB

protein complex

Inferred from direct assay PubMed 9529249. Source: BHF-UCL

replication fork

Inferred from Biological aspect of Ancestor. Source: RefGenome

   Molecular_functionATP binding

Inferred from direct assay PubMed 8183576. Source: UniProtKB

DNA binding

Inferred from mutant phenotype PubMed 2144364. Source: UniProtKB

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II core promoter sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II transcription factor binding

Inferred from physical interaction PubMed 18549481. Source: BHF-UCL

RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from direct assay PubMed 17146433. Source: BHF-UCL

chaperone binding

Inferred from physical interaction PubMed 18086682. Source: UniProtKB

chromatin binding

Inferred from direct assay Ref.73. Source: UniProtKB

copper ion binding

Inferred from direct assay PubMed 7824276. Source: UniProtKB

damaged DNA binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

enzyme binding

Inferred from physical interaction PubMed 10666337Ref.47PubMed 11781842PubMed 15044383PubMed 15577914Ref.118PubMed 7663514. Source: UniProtKB

histone acetyltransferase binding

Inferred from physical interaction PubMed 10518217PubMed 9194565. Source: UniProtKB

histone deacetylase regulator activity

Inferred from electronic annotation. Source: Ensembl

identical protein binding

Inferred from physical interaction PubMed 16291740PubMed 17612295PubMed 19339993PubMed 21522129PubMed 21988832PubMed 22653443. Source: IntAct

p53 binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

protease binding

Inferred from physical interaction PubMed 11923872. Source: UniProtKB

protein N-terminus binding

Inferred from physical interaction PubMed 11861836. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 20818423. Source: IntAct

protein heterodimerization activity

Inferred from physical interaction PubMed 10837489. Source: UniProtKB

protein kinase binding

Inferred from physical interaction Ref.52Ref.124. Source: UniProtKB

protein phosphatase 2A binding

Inferred from physical interaction Ref.88. Source: UniProtKB

protein phosphatase binding

Inferred from physical interaction PubMed 20562916. Source: UniProt

receptor tyrosine kinase binding

Inferred from physical interaction PubMed 23027130. Source: BHF-UCL

sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 7587074. Source: UniProtKB

transcription factor binding

Inferred from physical interaction PubMed 19505873. Source: UniProtKB

transcription regulatory region DNA binding

Inferred from direct assay PubMed 15710329PubMed 17996705. Source: BHF-UCL

ubiquitin protein ligase binding

Inferred from physical interaction PubMed 10415337Ref.92PubMed 18382127Ref.135PubMed 9529249. Source: UniProtKB

zinc ion binding

Traceable author statement PubMed 10065153. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

itself7EBI-366083,EBI-366083
P0307018EBI-366083,EBI-617698From a different organism.
P266639EBI-366083,EBI-6838571From a different organism.
Q7L7W22EBI-366083,EBI-7210801
Q8QW272EBI-366083,EBI-6863726From a different organism.
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
BHLHE40O145035EBI-366083,EBI-711810
BRD7Q9NPI18EBI-366083,EBI-711221
BTBD2Q9BX702EBI-366083,EBI-710091
Cables1Q9ESJ13EBI-366083,EBI-604411From a different organism.
CCDC106Q9BWC93EBI-366083,EBI-711501
CEBPBP176764EBI-366083,EBI-969696
CREBBPQ927938EBI-366083,EBI-81215
CrebbpP454816EBI-366083,EBI-296306From a different organism.
CSE1LP550605EBI-366083,EBI-286709
CUL7Q149994EBI-366083,EBI-308606
CUL9Q8IWT33EBI-366083,EBI-311123
CXXC1Q9P0U47EBI-366083,EBI-949911
DAXXQ9UER711EBI-366083,EBI-77321
DDX17Q928413EBI-366083,EBI-746012
DDX5P178446EBI-366083,EBI-351962
DUSP26Q9BV479EBI-366083,EBI-2924519
E6P031263EBI-366083,EBI-1177242From a different organism.
E6P064632EBI-366083,EBI-1186926From a different organism.
EP300Q0947210EBI-366083,EBI-447295
FBXO11Q86XK24EBI-366083,EBI-1047804
GSK3BP498413EBI-366083,EBI-373586
GTF2H1P327805EBI-366083,EBI-715539
HDAC1Q135476EBI-366083,EBI-301834
HIPK1Q86Z022EBI-366083,EBI-692891
HNRNPKP619782EBI-366083,EBI-304185
HNRNPKP61978-22EBI-366083,EBI-7060731
HSPA9P386466EBI-366083,EBI-354932
HSPB1P047922EBI-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
MAGEA2BP433566EBI-366083,EBI-5650739
MAGEC2Q9UBF13EBI-366083,EBI-5651487
MAP1BP468216EBI-366083,EBI-764611
MAPK11Q157592EBI-366083,EBI-298304
MAPKAPK5Q8IW412EBI-366083,EBI-1201460
MDM2Q0098762EBI-366083,EBI-389668
MDM4O1515113EBI-366083,EBI-398437
MKRN1Q9UHC78EBI-366083,EBI-373524
MPDZO759703EBI-366083,EBI-821405
MT1AP047313EBI-366083,EBI-8045030
NCLP193382EBI-366083,EBI-346967
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
NRD1O438476EBI-366083,EBI-2371631
NUAK1O602855EBI-366083,EBI-1046789
OTUB1Q96FW18EBI-366083,EBI-1058491
PARD3Q8TEW03EBI-366083,EBI-81968
PARP1P098743EBI-366083,EBI-355676
PBKQ96KB57EBI-366083,EBI-536853
PHBP352326EBI-366083,EBI-354213
PIAS1O759253EBI-366083,EBI-629434
PIAS4Q8N2W92EBI-366083,EBI-473160
PIN1Q1352612EBI-366083,EBI-714158
PLK1P533506EBI-366083,EBI-476768
PMLP295903EBI-366083,EBI-295890
PPIFP304054EBI-366083,EBI-5544229
PPP1CCP36873-12EBI-366083,EBI-356289
PPP1R13LQ8WUF511EBI-366083,EBI-5550163
PPP2R1AP301532EBI-366083,EBI-302388
PPP2R5CQ133623EBI-366083,EBI-1266156
PSME3P612897EBI-366083,EBI-355546
PTK2Q0539712EBI-366083,EBI-702142
RAD51Q066092EBI-366083,EBI-297202
RCHY1Q96PM57EBI-366083,EBI-947779
RYBPQ8N4883EBI-366083,EBI-752324
S100A1P232972EBI-366083,EBI-743686
S100A2P290342EBI-366083,EBI-752230
S100A4P264473EBI-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 a different organism.
SNAI1O958632EBI-366083,EBI-1045459
SREBF2Q127723EBI-366083,EBI-465059
SRPK1Q96SB43EBI-366083,EBI-539478
SYVN1Q86TM65EBI-366083,EBI-947849
TBPP202262EBI-366083,EBI-355371
TOE1Q96GM83EBI-366083,EBI-717460
TP53BP1Q128882EBI-366083,EBI-396540
TP53BP2Q136252EBI-366083,EBI-77642
TP63Q9H3D45EBI-366083,EBI-2337775
Tp63O888982EBI-366083,EBI-2338025From a different organism.
TPT1P136935EBI-366083,EBI-1783169
TWIST1Q156729EBI-366083,EBI-1797287
Twist1P266874EBI-366083,EBI-6123119From a different organism.
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 a different organism.

Alternative products

This entry describes 9 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]
Isoform 1 (identifier: P04637-1)

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.
Isoform 2 (identifier: P04637-2)

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.
Isoform 3 (identifier: P04637-3)

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.
Isoform 4 (identifier: P04637-4)

Also known as: Del40-p53; Del40-p53alpha; p47;

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.
Isoform 5 (identifier: P04637-5)

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.
Isoform 6 (identifier: P04637-6)

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.
Isoform 7 (identifier: P04637-7)

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.
Isoform 8 (identifier: P04637-8)

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.
Isoform 9 (identifier: P04637-9)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 393393Cellular tumor antigen p53
PRO_0000185703

Regions

DNA binding102 – 292191
Region1 – 8383Interaction with HRMT1L2
Region1 – 4444Transcription activation (acidic)
Region66 – 11045Interaction with WWOX
Region100 – 370271Interaction with HIPK1 By similarity
Region100 – 300201Required for interaction with ZNF385A
Region113 – 236124Required for interaction with FBXO42
Region116 – 292177Interaction with AXIN1 By similarity
Region241 – 2488Interacts with the 53BP2 SH3 domain
Region256 – 29439Interaction with E4F1
Region273 – 2808Interaction with DNA
Region300 – 39394Interaction with CARM1
Region319 – 36042Interaction with HIPK2
Region325 – 35632Oligomerization
Region359 – 3635Interaction with USP7
Region368 – 38720Basic (repression of DNA-binding)
Motif17 – 259TADI
Motif48 – 569TADII
Motif305 – 32117Bipartite nuclear localization signal
Motif339 – 35012Nuclear export signal
Motif370 – 3723[KR]-[STA]-K motif

Sites

Metal binding1761Zinc
Metal binding1791Zinc
Metal binding2381Zinc
Metal binding2421Zinc
Site1201Interaction with DNA

Amino acid modifications

Modified residue91Phosphoserine; by HIPK4 Ref.90
Modified residue151Phosphoserine; by CDK5, PRPK, AMPK, NUAK1 and ATM Ref.38 Ref.46 Ref.74 Ref.77 Ref.78 Ref.94 Ref.101 Ref.124
Modified residue181Phosphothreonine; by CK1, VRK1 and VRK2 Ref.36 Ref.44 Ref.79
Modified residue201Phosphoserine; by CHEK2, CK1 and PLK3 Ref.38 Ref.49 Ref.50 Ref.61 Ref.111
Modified residue331Phosphoserine; by CDK5 and CDK7 Ref.33 Ref.94
Modified residue371Phosphoserine; by MAPKAPK5 Ref.85
Modified residue461Phosphoserine; by CDK5, DYRK2, HIPK2 and PKC/PRKCG Ref.57 Ref.58 Ref.81 Ref.94 Ref.95
Modified residue551Phosphothreonine; by TAF1 and GRK5 Ref.68 Ref.116
Modified residue1201N6-acetyllysine; by KAT6A Ref.129
Modified residue1831Phosphoserine; by AURKB Ref.122
Modified residue2691Phosphoserine; by AURKB Ref.122
Modified residue2841Phosphothreonine; by AURKB Ref.122
Modified residue3051N6-acetyllysine Ref.60
Modified residue3151Phosphoserine; by AURKA, CDK1 and CDK2 Ref.41 Ref.72
Modified residue3211N6-acetyllysine By similarity
Modified residue3701N6,N6-dimethyllysine; alternate Ref.82 Ref.128
Modified residue3701N6-methyllysine; by SMYD2; alternate Ref.82 Ref.128
Modified residue3721N6-methyllysine; by SETD7 Ref.71 Ref.84
Modified residue3731N6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate Ref.114
Modified residue3731N6-acetyllysine; alternate Ref.40
Modified residue3811N6-acetyllysine Ref.108
Modified residue3821N6,N6-dimethyllysine; alternate Ref.97 Ref.128 Ref.141
Modified residue3821N6-acetyllysine; by KAT6A; alternate Ref.40 Ref.47 Ref.108 Ref.117 Ref.129
Modified residue3821N6-methyllysine; by SETD8; alternate Ref.97 Ref.128 Ref.141
Modified residue3921Phosphoserine; by CK2, CDK2 and NUAK1 Ref.41 Ref.53 Ref.78 Ref.124 Ref.126
Cross-link291Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.103
Cross-link292Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.103
Cross-link386Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.35 Ref.51 Ref.126

Natural variations

Alternative sequence1 – 132132Missing in isoform 7, isoform 8 and isoform 9.
VSP_040833
Alternative sequence1 – 3939Missing in isoform 4, isoform 5 and isoform 6.
VSP_040832
Alternative sequence332 – 34615IRGRE…RELNE → MLLDLRWCYFLINSS in isoform 3, isoform 6 and isoform 9.
VSP_040560
Alternative sequence332 – 34110IRGRERFEMF → DQTSFQKENC in isoform 2, isoform 5 and isoform 8.
VSP_006535
Alternative sequence342 – 39352Missing in isoform 2, isoform 5 and isoform 8.
VSP_006536
Alternative sequence347 – 39347Missing in isoform 3, isoform 6 and isoform 9.
VSP_040561
Natural variant51Q → H in a sporadic cancer; somatic mutation; abolishes strongly phosphorylation.
VAR_044543
Natural variant61S → L in a sporadic cancer; somatic mutation; reduces interaction with ZNF385A.
VAR_044544
Natural variant71D → H in a sporadic cancer; somatic mutation.
VAR_005851
Natural variant81P → S in a sporadic cancer; somatic mutation.
VAR_044545
Natural variant101V → I in a sporadic cancer; somatic mutation.
VAR_044546
Natural variant111E → K in sporadic cancers; somatic mutation.
VAR_044547
Natural variant111E → Q in sporadic cancers; somatic mutation.
VAR_044548
Natural variant151S → R in a sporadic cancer; somatic mutation.
VAR_044549
Natural variant161Q → L in a sporadic cancer; somatic mutation.
VAR_044550
Natural variant171E → D in a sporadic cancer; somatic mutation.
VAR_044551
Natural variant241K → N in a sporadic cancer; somatic mutation.
VAR_044552
Natural variant281E → A in a sporadic cancer; somatic mutation.
VAR_044553
Natural variant29 – 302NN → KD in a sporadic cancer; somatic mutation.
VAR_047158
Natural variant311V → I in sporadic cancers; somatic mutation.
VAR_044554
Natural variant331S → T in a sporadic cancer; somatic mutation.
VAR_044555
Natural variant341P → L in a sporadic cancer; somatic mutation.
VAR_044556
Natural variant351L → F in sporadic cancers; somatic mutation.
VAR_005852
Natural variant361P → L in a sporadic cancer; somatic mutation.
VAR_044557
Natural variant371S → P in a sporadic cancer; somatic mutation.
VAR_044558
Natural variant371S → T in a sporadic cancer; somatic mutation.
VAR_044559
Natural variant391A → P in a sporadic cancer; somatic mutation.
VAR_044560
Natural variant391A → V in a sporadic cancer; somatic mutation.
VAR_044561
Natural variant421D → Y in a sporadic cancer; somatic mutation.
VAR_044562
Natural variant431L → S in a sporadic cancer; somatic mutation.
VAR_005853
Natural variant441M → I in a sporadic cancer; somatic mutation.
VAR_044563
Natural variant441M → T in a sporadic cancer; somatic mutation.
VAR_044564
Natural variant441M → V in a sporadic cancer; somatic mutation.
VAR_044565
Natural variant451L → M in a sporadic cancer; somatic mutation.
VAR_044566
Natural variant461S → F in sporadic cancers; somatic mutation.
VAR_044567
Natural variant461S → P in sporadic cancers; somatic mutation.
VAR_044568
Natural variant471P → L in sporadic cancers; somatic mutation.
VAR_044569
Natural variant471P → S. Ref.12
Corresponds to variant rs1800371 [ dbSNP | Ensembl ].
VAR_014632
Natural variant481D → G in a sporadic cancer; somatic mutation.
VAR_044570
Natural variant491D → H in sporadic cancers; somatic mutation.
VAR_044571
Natural variant491D → N in a sporadic cancer; somatic mutation.
VAR_044572
Natural variant491D → Y in sporadic cancers; somatic mutation.
VAR_044573
Natural variant521Q → H in a sporadic cancer; somatic mutation.
VAR_044574
Natural variant531W → C in sporadic cancers; somatic mutation.
VAR_005854
Natural variant531W → G in a sporadic cancer; somatic mutation.
VAR_044575
Natural variant541F → L in a sporadic cancer; somatic mutation.
VAR_044576
Natural variant541F → Y in a sporadic cancer; somatic mutation.
VAR_044577
Natural variant561E → K in sporadic cancers; somatic mutation.
VAR_044578
Natural variant561E → V in a sporadic cancer; somatic mutation.
VAR_044579
Natural variant581P → Q in a sporadic cancer; somatic mutation.
VAR_044580
Natural variant581P → T in a sporadic cancer; somatic mutation.
VAR_044581
Natural variant591G → C in sporadic cancers; somatic mutation.
VAR_044582
Natural variant591G → D in sporadic cancers; somatic mutation.
VAR_044583
Natural variant591G → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045783
Natural variant601P → L in sporadic cancers; somatic mutation.
VAR_044584
Natural variant601P → Q in a sporadic cancer; somatic mutation.
VAR_044585
Natural variant601P → S in a sporadic cancer; somatic mutation.
VAR_005855
Natural variant611D → G in sporadic cancers; somatic mutation.
VAR_044586
Natural variant611D → N in sporadic cancers; somatic mutation.
VAR_044587
Natural variant621E → D in a sporadic cancer; somatic mutation.
VAR_044588
Natural variant631A → T in a sporadic cancer; somatic mutation.
VAR_044589
Natural variant631A → V in a sporadic cancer; somatic mutation.
VAR_044590
Natural variant651R → T in a sporadic cancer; somatic mutation.
VAR_044591
Natural variant661M → I in a sporadic cancer; somatic mutation.
VAR_044592
Natural variant661M → R in a sporadic cancer; somatic mutation.
VAR_044593
Natural variant671P → L in sporadic cancers; somatic mutation.
VAR_044594
Natural variant671P → R in a sporadic cancer; somatic mutation.
VAR_044595
Natural variant671P → S in sporadic cancers; somatic mutation.
VAR_044596
Natural variant681E → G in sporadic cancers; somatic mutation.
VAR_044597
Natural variant681E → Q in a sporadic cancer; somatic mutation.
VAR_044598
Natural variant691A → D in a sporadic cancer; somatic mutation.
VAR_044599
Natural variant691A → G in sporadic cancers; somatic mutation.
VAR_044600
Natural variant691A → T in a sporadic cancer; somatic mutation.
VAR_044601
Natural variant691A → V in a sporadic cancer; somatic mutation.
VAR_044602
Natural variant701A → T in a sporadic cancer; somatic mutation.
VAR_044603
Natural variant711P → T in a sporadic cancer; somatic mutation.
VAR_044604
Natural variant721P → C in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions.
VAR_045784
Natural variant721P → G in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions.
VAR_045785
Natural variant721P → H in sporadic cancers; somatic mutation.
VAR_045786
Natural variant721P → L in a sporadic cancer; somatic mutation.
VAR_045787
Natural variant721P → R. Ref.9 Ref.15 Ref.17 Ref.152
Corresponds to variant rs1042522 [ dbSNP | Ensembl ].
VAR_005856
Natural variant731V → E in a sporadic cancer; somatic mutation.
VAR_044605
Natural variant731V → L in sporadic cancers; somatic mutation.
VAR_044606
Natural variant731V → M in sporadic cancers; somatic mutation.
VAR_044607
Natural variant741A → T in a sporadic cancer; somatic mutation.
VAR_044608
Natural variant751P → L in sporadic cancers; somatic mutation.
VAR_044609
Natural variant751P → R in sporadic cancers; somatic mutation.
VAR_044610
Natural variant751P → S in a sporadic cancer; somatic mutation.
VAR_044611
Natural variant761A → G in a sporadic cancer; somatic mutation.
VAR_044612
Natural variant761A → T in a sporadic cancer; somatic mutation.
VAR_044613
Natural variant771P → A in sporadic cancers; somatic mutation.
VAR_044614
Natural variant781A → V in sporadic cancers; somatic mutation.
VAR_044615
Natural variant791A → G in a sporadic cancer; somatic mutation.
VAR_044616
Natural variant791A → T in a sporadic cancer; somatic mutation.
VAR_005857
Natural variant791A → V in sporadic cancers; somatic mutation.
VAR_044617
Natural variant801P → L in a sporadic cancer; somatic mutation.
VAR_044618
Natural variant801P → S in a sporadic cancer; somatic mutation.
VAR_044619
Natural variant811T → I in sporadic cancers; somatic mutation.
VAR_044620
Natural variant821P → L in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044621
Natural variant821P → S in sporadic cancers; somatic mutation.
VAR_044622
Natural variant831A → E in a sporadic cancer; somatic mutation.
VAR_044623
Natural variant831A → V in sporadic cancers; somatic mutation.
Corresponds to variant rs201717599 [ dbSNP | Ensembl ].
VAR_044624
Natural variant841A → G in sporadic cancers; somatic mutation.
VAR_044625
Natural variant841A → V in sporadic cancers; somatic mutation.
VAR_044626
Natural variant851P → L in sporadic cancers; somatic mutation.
VAR_044627
Natural variant851P → S in sporadic cancers; somatic mutation.
VAR_044628
Natural variant861A → V in a sporadic cancer; somatic mutation.
VAR_044629
Natural variant871P → Q in sporadic cancers; somatic mutation.
VAR_005858
Natural variant881A → T in a sporadic cancer; somatic mutation.
VAR_044630
Natural variant881A → V in sporadic cancers; somatic mutation.
VAR_044631
Natural variant891P → L in sporadic cancers; somatic mutation.
VAR_044632
Natural variant891P → S in sporadic cancers; somatic mutation.
VAR_044633
Natural variant901S → F in sporadic cancers; somatic mutation.
VAR_044634
Natural variant901S → Y in a sporadic cancer; somatic mutation.
VAR_044635
Natural variant911W → C in a sporadic cancer; somatic mutation.
VAR_044636
Natural variant921P → A in a sporadic cancer; somatic mutation.
VAR_044637
Natural variant921P → L in a sporadic cancer; somatic mutation.
VAR_044638
Natural variant921P → S in a sporadic cancer; somatic mutation.
VAR_044639
Natural variant931L → M in a sporadic cancer; somatic mutation.
VAR_044640
Natural variant931L → P in a sporadic cancer; somatic mutation.
VAR_044641
Natural variant941S → L in sporadic cancers; somatic mutation.
VAR_044642
Natural variant941S → T in sporadic cancers; somatic mutation.
VAR_005859
Natural variant951S → F in sporadic cancers; somatic mutation.
VAR_044643
Natural variant951S → T in a sporadic cancer; somatic mutation.
VAR_044644
Natural variant961S → C in a sporadic cancer; somatic mutation.
VAR_044645
Natural variant961S → F in sporadic cancers; somatic mutation.
VAR_044646
Natural variant961S → P in a sporadic cancer; somatic mutation.
VAR_044647
Natural variant971V → A in a sporadic cancer; somatic mutation.
VAR_044648
Natural variant971V → F in a sporadic cancer; somatic mutation.
VAR_044649
Natural variant971V → I in familial cancer not matching LFS; germline mutation and in a sporadic cancer; somatic mutation.
VAR_044650
Natural variant981P → L in sporadic cancers; somatic mutation.
VAR_044651
Natural variant981P → S in sporadic cancers; somatic mutation.
VAR_044652
Natural variant991S → F in sporadic cancers; somatic mutation.
VAR_044653
Natural variant991S → P in a sporadic cancer; somatic mutation.
VAR_044654
Natural variant1001Q → R in a sporadic cancer; somatic mutation.
VAR_044655
Natural variant1011K → N in a sporadic cancer; somatic mutation.
VAR_044656
Natural variant1011K → R in sporadic cancers; somatic mutation.
VAR_044657
Natural variant1021T → I in sporadic cancers; somatic mutation.
VAR_044658
Natural variant1041Q → H in sporadic cancers; somatic mutation.
VAR_044659
Natural variant1041Q → L in a sporadic cancer; somatic mutation.
VAR_044660
Natural variant1051G → C in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044661
Natural variant1051G → D in sporadic cancers; somatic mutation.
VAR_044662
Natural variant1051G → R in sporadic cancers; somatic mutation.
VAR_044663
Natural variant1051G → S in a sporadic cancer; somatic mutation.
VAR_044664
Natural variant1051G → V in sporadic cancers; somatic mutation.
VAR_044665
Natural variant1061S → G in a sporadic cancer; somatic mutation.
VAR_044666
Natural variant1061S → R in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044667
Natural variant1071Y → C in a sporadic cancer; somatic mutation.
VAR_044668
Natural variant1071Y → D in sporadic cancers; somatic mutation.
VAR_044669
Natural variant1071Y → H in a sporadic cancer; somatic mutation.
VAR_044670
Natural variant1081G → D in a sporadic cancer; somatic mutation.
VAR_044671
Natural variant1081G → S in sporadic cancers; somatic mutation.
VAR_044672
Natural variant1091F → C in sporadic cancers; somatic mutation.
VAR_044673
Natural variant1091F → L in a sporadic cancer; somatic mutation.
VAR_044674
Natural variant1091F → S in sporadic cancers; somatic mutation.
VAR_044675
Natural variant1101R → C in sporadic cancers; somatic mutation.
VAR_005860
Natural variant1101R → G in a sporadic cancer; somatic mutation.
VAR_044676
Natural variant1101R → H in sporadic cancers; somatic mutation.
VAR_044677
Natural variant1101R → L in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation. Ref.112
VAR_005861
Natural variant1101R → P in sporadic cancers; somatic mutation.
Corresponds to variant rs11540654 [ dbSNP | Ensembl ].
VAR_005862
Natural variant1101R → S in a sporadic cancer; somatic mutation.
VAR_044678
Natural variant1111L → M in a sporadic cancer; somatic mutation.
VAR_044679
Natural variant1111L → P in sporadic cancers; somatic mutation.
VAR_044680
Natural variant1111L → Q in sporadic cancers; somatic mutation.
VAR_044681
Natural variant1111L → R in sporadic cancers; somatic mutation.
VAR_044682
Natural variant1121G → D in sporadic cancers; somatic mutation.
VAR_044683
Natural variant1121G → S in sporadic cancers; somatic mutation.
VAR_044684
Natural variant1131F → C in sporadic cancers; somatic mutation.
VAR_005863
Natural variant1131F → G in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045788
Natural variant1131F → I in a sporadic cancer; somatic mutation.
VAR_044685
Natural variant1131F → L in sporadic cancers; somatic mutation.
VAR_044686
Natural variant1131F → S in sporadic cancers; somatic mutation.
VAR_044687
Natural variant1131F → V in sporadic cancers; somatic mutation.
VAR_033033
Natural variant1151H → Y in sporadic cancers; somatic mutation.
VAR_044688
Natural variant1161S → C in sporadic cancers; somatic mutation.
VAR_044689
Natural variant1161S → F in a sporadic cancer; somatic mutation.
VAR_044690
Natural variant1161S → P in a sporadic cancer; somatic mutation.
VAR_044691
Natural variant1171G → E in sporadic cancers; somatic mutation.
VAR_044692
Natural variant1171G → R in sporadic cancers; somatic mutation.
VAR_044693
Natural variant1181T → A in a sporadic cancer; somatic mutation.
VAR_044694
Natural variant1181T → I in sporadic cancers; somatic mutation.
VAR_044695
Natural variant1181T → R in a sporadic cancer; somatic mutation.
VAR_044696
Natural variant1191A → D in a sporadic cancer; somatic mutation.
VAR_044697
Natural variant1191A → T in a sporadic cancer; somatic mutation.
VAR_044698
Natural variant1201K → E in sporadic cancers; somatic mutation.
VAR_044699
Natural variant1201K → M in sporadic cancers; somatic mutation.
VAR_044700
Natural variant1201K → Q in a sporadic cancer; somatic mutation.
VAR_044701
Natural variant1201K → R in sporadic cancers; somatic mutation.
VAR_044702
Natural variant1211S → F in sporadic cancers; somatic mutation.
VAR_044703
Natural variant1221V → L in a sporadic cancer; somatic mutation.
VAR_044704
Natural variant1231T → I in a sporadic cancer; somatic mutation.
VAR_044705
Natural variant1231T → N in a sporadic cancer; somatic mutation.
VAR_044706
Natural variant1241C → G in a sporadic cancer; somatic mutation.
VAR_044707
Natural variant1241C → R in sporadic cancers; somatic mutation.
VAR_044708
Natural variant1241C → S in sporadic cancers; somatic mutation.
VAR_044709
Natural variant1241C → W in a sporadic cancer; somatic mutation.
VAR_044710
Natural variant1241C → Y in a sporadic cancer; somatic mutation.
VAR_044711
Natural variant1251T → A in a sporadic cancer; somatic mutation.
VAR_044712
Natural variant1251T → K in sporadic cancers; somatic mutation.
VAR_044713
Natural variant1251T → M in sporadic cancers; somatic mutation.
VAR_005864
Natural variant1251T → P in a sporadic cancer; somatic mutation.
VAR_044714
Natural variant1251T → R in sporadic cancers; somatic mutation.
VAR_044715
Natural variant1261Y → C in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044716
Natural variant1261Y → D in sporadic cancers; somatic mutation.
VAR_005865
Natural variant1261Y → F in a sporadic cancer; somatic mutation.
VAR_044717
Natural variant1261Y → G in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045789
Natural variant1261Y → H in sporadic cancers; somatic mutation.
VAR_044718
Natural variant1261Y → N in sporadic cancers; somatic mutation.
VAR_005866
Natural variant1261Y → S in sporadic cancers; somatic mutation.
VAR_044719
Natural variant1271S → C in a sporadic cancer; somatic mutation.
VAR_044720
Natural variant1271S → F in sporadic cancers; somatic mutation.
VAR_005867
Natural variant1271S → P in sporadic cancers; somatic mutation.
VAR_044721
Natural variant1271S → T in sporadic cancers; somatic mutation.
VAR_044722
Natural variant1271S → Y in sporadic cancers; somatic mutation.
VAR_044723
Natural variant1281P → A in sporadic cancers; somatic mutation.
VAR_044724
Natural variant1281P → L in sporadic cancers; somatic mutation.
VAR_044725
Natural variant1281P → R in sporadic cancers; somatic mutation.
VAR_044726
Natural variant1281P → S in sporadic cancers; somatic mutation.
VAR_005868
Natural variant1291A → D in sporadic cancers; somatic mutation.
VAR_005869
Natural variant1291A → G in a sporadic cancer; somatic mutation.
VAR_044727
Natural variant1291A → T in sporadic cancers; somatic mutation.
VAR_044728
Natural variant1291A → V in sporadic cancers; somatic mutation.
VAR_044729
Natural variant1301L → F in sporadic cancers; somatic mutation.
VAR_044730
Natural variant1301L → H in sporadic cancers; somatic mutation.
VAR_044731
Natural variant1301L → I in a sporadic cancer; somatic mutation.
VAR_044732
Natural variant1301L → P in sporadic cancers; somatic mutation.
VAR_044733
Natural variant1301L → R in sporadic cancers; somatic mutation.
VAR_005870
Natural variant1301L → V in sporadic cancers; somatic mutation.
VAR_044734
Natural variant1311N → D in a sporadic cancer; somatic mutation.
VAR_044735
Natural variant1311N → H in sporadic cancers; somatic mutation.
VAR_044736
Natural variant1311N → I in sporadic cancers; somatic mutation.
VAR_044737
Natural variant1311N → K in sporadic cancers; somatic mutation.
VAR_005872
Natural variant1311N → S in sporadic cancers; somatic mutation.
VAR_005871
Natural variant1311N → T in a sporadic cancer; somatic mutation.
VAR_044738
Natural variant1311N → Y in sporadic cancers; somatic mutation.
VAR_044739
Natural variant132 – 1332KM → NL in a sporadic cancer; somatic mutation.
VAR_047159
Natural variant1321K → E in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044740
Natural variant1321K → L in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045790
Natural variant1321K → M in sporadic cancers; somatic mutation.
VAR_005873
Natural variant1321K → N in sporadic cancers; somatic mutation.
VAR_044741
Natural variant1321K → Q in sporadic cancers; somatic mutation.
VAR_005874
Natural variant1321K → R in sporadic cancers; somatic mutation.
VAR_044742
Natural variant1321K → T in sporadic cancers; somatic mutation.
VAR_044743
Natural variant1321K → W in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045791
Natural variant1331M → I in sporadic cancers; somatic mutation.
VAR_044744
Natural variant1331M → K in sporadic cancers; somatic mutation.
VAR_044745
Natural variant1331M → L in sporadic cancers; somatic mutation.
VAR_044746
Natural variant1331M → R in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044747
Natural variant1331M → T in LFS; germline mutation and in sporadic cancers; somatic mutation. Ref.153
Corresponds to variant rs28934873 [ dbSNP | Ensembl ].
VAR_005875
Natural variant1331M → V in sporadic cancers; somatic mutation.
VAR_044748
Natural variant1341F → C in sporadic cancers; somatic mutation.
VAR_044749
Natural variant1341F → I in sporadic cancers; somatic mutation.
VAR_044750
Natural variant1341F → L in sporadic cancers; somatic mutation.
VAR_036504
Natural variant1341F → S in sporadic cancers; somatic mutation.
VAR_044751
Natural variant1341F → V in sporadic cancers; somatic mutation.
VAR_044752
Natural variant1351C → F in sporadic cancers; somatic mutation.
VAR_005877
Natural variant1351C → G in sporadic cancers; somatic mutation.
VAR_044753
Natural variant1351C → R in sporadic cancers; somatic mutation.
VAR_044754
Natural variant1351C → S in sporadic cancers; somatic mutation.
VAR_005876
Natural variant1351C → T in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045792
Natural variant1351C → W in sporadic cancers; somatic mutation.
VAR_044755
Natural variant1351C → Y in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP.
VAR_044756
Natural variant1361Q → E in sporadic cancers; somatic mutation.
VAR_005878
Natural variant1361Q → H in sporadic cancers; somatic mutation.
VAR_044757
Natural variant1361Q → K in a sporadic cancer; somatic mutation.
VAR_005879
Natural variant1361Q → P in sporadic cancers; somatic mutation.
VAR_044758
Natural variant1361Q → R in sporadic cancers; somatic mutation.
VAR_044759
Natural variant1371L → M in sporadic cancers; somatic mutation.
VAR_044760
Natural variant1371L → P in sporadic cancers; somatic mutation.
VAR_044761
Natural variant1371L → Q in sporadic cancers; somatic mutation.
VAR_005880
Natural variant1371L → V in sporadic cancers; somatic mutation.
VAR_044762
Natural variant1381A → D in sporadic cancers; somatic mutation.
VAR_044763
Natural variant1381A → P in LFS; germline mutation and in sporadic cancers; somatic mutation.
Corresponds to variant rs28934875 [ dbSNP | Ensembl ].
VAR_005881
Natural variant1381A → S in LFS; germline mutation.
VAR_044764
Natural variant1381A → T in sporadic cancers; somatic mutation.
VAR_044765
Natural variant1381A → V in sporadic cancers; somatic mutation.
VAR_033034
Natural variant1391K → E in sporadic cancers; somatic mutation.
VAR_044766
Natural variant1391K → N in sporadic cancers; somatic mutation.
VAR_005882
Natural variant1391K → Q in sporadic cancers; somatic mutation.
VAR_044767
Natural variant1391K → R in sporadic cancers; somatic mutation.
VAR_044768
Natural variant1391K → T in sporadic cancers; somatic mutation.
VAR_044769
Natural variant1401T → A in sporadic cancers; somatic mutation.
VAR_044770
Natural variant1401T → I in sporadic cancers; somatic mutation.
VAR_044771
Natural variant1401T → N in a sporadic cancer; somatic mutation.
VAR_044772
Natural variant1401T → P in a sporadic cancer; somatic mutation.
VAR_044773
Natural variant1401T → S in sporadic cancers; somatic mutation.
VAR_044774
Natural variant1411C → A in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045793
Natural variant1411C → F in sporadic cancers; somatic mutation.
VAR_005885
Natural variant1411C → G in sporadic cancers; somatic mutation.
VAR_005884
Natural variant1411C → R in sporadic cancers; somatic mutation.
VAR_044775
Natural variant1411C → S in sporadic cancers; somatic mutation.
VAR_044776
Natural variant1411C → W in sporadic cancers; somatic mutation.
VAR_044777
Natural variant1411C → Y in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005886
Natural variant1421P → A in sporadic cancers; somatic mutation.
VAR_044778
Natural variant1421P → F in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions.
VAR_045794
Natural variant1421P → H in sporadic cancers; somatic mutation.
VAR_044779
Natural variant1421P → L in sporadic cancers; somatic mutation.
VAR_044780
Natural variant1421P → R in a sporadic cancer; somatic mutation.
VAR_044781
Natural variant1421P → S in sporadic cancers; somatic mutation.
VAR_044782
Natural variant1421P → T in sporadic cancers; somatic mutation.
VAR_044783
Natural variant1431V → 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.
VAR_005887
Natural variant1431V → E in sporadic cancers; somatic mutation.
VAR_044784
Natural variant1431V → G in sporadic cancers; somatic mutation.
VAR_044785
Natural variant1431V → L in sporadic cancers; somatic mutation.
VAR_044786
Natural variant1431V → M in sporadic cancers; somatic mutation.
VAR_044787
Natural variant1441Q → H in sporadic cancers; somatic mutation.
VAR_044788
Natural variant1441Q → K in sporadic cancers; somatic mutation.
VAR_044789
Natural variant1441Q → L in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044790
Natural variant1441Q → P in sporadic cancers; somatic mutation.
VAR_005888
Natural variant1441Q → R in sporadic cancers; somatic mutation.
VAR_044791
Natural variant1451L → M in sporadic cancers; somatic mutation.
VAR_044792
Natural variant1451L → P in sporadic cancers; somatic mutation.
VAR_005889
Natural variant1451L → Q in sporadic cancers; somatic mutation.
VAR_005890
Natural variant1451L → R in sporadic cancers; somatic mutation.
VAR_044793
Natural variant1451L → V in sporadic cancers; somatic mutation.
VAR_044794
Natural variant1461W → C in a sporadic cancer; somatic mutation.
VAR_044795
Natural variant1461W → G in sporadic cancers; somatic mutation.
VAR_044796
Natural variant1461W → L in sporadic cancers; somatic mutation.
VAR_044797
Natural variant1461W → R in sporadic cancers; somatic mutation.
VAR_044798
Natural variant1461W → S in sporadic cancers; somatic mutation.
VAR_044799
Natural variant1471V → A in sporadic cancers; somatic mutation.
VAR_044800
Natural variant1471V → D in sporadic cancers; somatic mutation.
VAR_005891
Natural variant1471V → E in sporadic cancers; somatic mutation.
VAR_044801
Natural variant1471V → F in a sporadic cancer; somatic mutation.
VAR_044802
Natural variant1471V → G in sporadic cancers; somatic mutation.
VAR_005892
Natural variant1471V → I in sporadic cancers; somatic mutation.
VAR_044803
Natural variant1481D → A in a sporadic cancer; somatic mutation.
VAR_044804
Natural variant1481D → E in sporadic cancers; somatic mutation.
VAR_044805
Natural variant1481D → G in a sporadic cancer; somatic mutation.
VAR_044806
Natural variant1481D → N in sporadic cancers; somatic mutation.
VAR_044807
Natural variant1481D → V in sporadic cancers; somatic mutation.
VAR_044808
Natural variant1481D → Y in sporadic cancers; somatic mutation.
VAR_044809
Natural variant1491S → F in sporadic cancers; somatic mutation.
VAR_044810
Natural variant1491S → P in sporadic cancers; somatic mutation.
VAR_005893
Natural variant1491S → T in sporadic cancers; somatic mutation.
VAR_044811
Natural variant1501T → A in a sporadic cancer; somatic mutation.
VAR_044812
Natural variant1501T → I in sporadic cancers; somatic mutation.
VAR_044813
Natural variant1501T → K in sporadic cancers; somatic mutation.
VAR_044814
Natural variant1501T → N in a sporadic cancer; somatic mutation.
VAR_044815
Natural variant1501T → P in a sporadic cancer; somatic mutation.
VAR_044816
Natural variant1501T → R in a sporadic cancer; somatic mutation.
VAR_044817
Natural variant1511P → A in sporadic cancers; somatic mutation.
VAR_005894
Natural variant1511P → H in sporadic cancers; somatic mutation.
VAR_044818
Natural variant1511P → L in sporadic cancers; somatic mutation.
VAR_044819
Natural variant1511P → R in sporadic cancers; somatic mutation.
VAR_044820
Natural variant1511P → S in LFS; germline mutation and in sporadic cancers; somatic mutation. Ref.171
Corresponds to variant rs28934874 [ dbSNP | Ensembl ].
VAR_005895
Natural variant1511P → T in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005896
Natural variant1521P → A in sporadic cancers; somatic mutation.
VAR_044821
Natural variant1521P → L in LFS; germline mutation and in sporadic cancers; somatic mutation. Ref.162
VAR_005897
Natural variant1521P → Q in sporadic cancers; somatic mutation.
VAR_044822
Natural variant1521P → R in sporadic cancers; somatic mutation.
VAR_044823
Natural variant1521P → S in sporadic cancers; somatic mutation.
VAR_005898
Natural variant1521P → T in sporadic cancers; somatic mutation.
VAR_044824
Natural variant1531P → A in sporadic cancers; somatic mutation.
VAR_044825
Natural variant1531P → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045795
Natural variant1531P → H in a sporadic cancer; somatic mutation.
VAR_044826
Natural variant1531P → L in sporadic cancers; somatic mutation.
VAR_044827
Natural variant1531P → R in a sporadic cancer; somatic mutation.
VAR_044828
Natural variant1531P → S in sporadic cancers; somatic mutation.
VAR_044829
Natural variant1531P → T in sporadic cancers; somatic mutation.
VAR_005899
Natural variant1541G → A in sporadic cancers; somatic mutation.
VAR_044830
Natural variant1541G → C in a sporadic cancer; somatic mutation.
VAR_044831
Natural variant1541G → D in sporadic cancers; somatic mutation.
VAR_044832
Natural variant1541G → I in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions.
VAR_045796
Natural variant1541G → S in sporadic cancers; somatic mutation.
VAR_044833
Natural variant1541G → V in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation. Ref.160
VAR_005900
Natural variant1551T → A in sporadic cancers; somatic mutation.
VAR_005901
Natural variant1551T → I in sporadic cancers; somatic mutation.
VAR_044834
Natural variant1551T → M in a sporadic cancer; somatic mutation.
VAR_044835
Natural variant1551T → N in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044836
Natural variant1551T → P in sporadic cancers; somatic mutation; does not induce SNAI1 degradation.
VAR_044837
Natural variant1551T → S in sporadic cancers; somatic mutation.
VAR_044838
Natural variant1561R → C in sporadic cancers; somatic mutation.
VAR_044839
Natural variant1561R → G in sporadic cancers; somatic mutation.
VAR_044840
Natural variant1561R → H in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044841
Natural variant1561R → L in sporadic cancers; somatic mutation.
VAR_044842
Natural variant1561R → P in sporadic cancers; somatic mutation.
VAR_005902
Natural variant1561R → S in sporadic cancers; somatic mutation.
VAR_044843
Natural variant1571V → A in sporadic cancers; somatic mutation.
VAR_044844
Natural variant1571V → D in sporadic cancers; somatic mutation.
VAR_005903
Natural variant1571V → F in sporadic cancers; somatic mutation.
VAR_005904
Natural variant1571V → G in sporadic cancers; somatic mutation.
VAR_044845
Natural variant1571V → I in sporadic cancers; somatic mutation.
VAR_012977
Natural variant1571V → L in sporadic cancers; somatic mutation.
VAR_044846
Natural variant1581R → C in sporadic cancers; somatic mutation.
VAR_005905
Natural variant1581R → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045797
Natural variant1581R → G in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005906
Natural variant1581R → H in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005907
Natural variant1581R → L in sporadic cancers; somatic mutation.
VAR_044847
Natural variant1581R → P in sporadic cancers; somatic mutation.
VAR_044848
Natural variant1581R → Q in a sporadic cancer; somatic mutation.
VAR_044849
Natural variant1581R → S in sporadic cancers; somatic mutation.
VAR_044850
Natural variant1581R → Y in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045798
Natural variant1591A → D in sporadic cancers; somatic mutation.
VAR_044851
Natural variant1591A → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045799
Natural variant1591A → G in sporadic cancers; somatic mutation.
VAR_044852
Natural variant1591A → P in sporadic cancers; somatic mutation.
VAR_044853
Natural variant1591A → S in sporadic cancers; somatic mutation.
VAR_044854
Natural variant1591A → T in sporadic cancers; somatic mutation.
VAR_044855
Natural variant1591A → V in sporadic cancers; somatic mutation.
VAR_044856
Natural variant160 – 1612MA → IP in a sporadic cancer; somatic mutation.
VAR_047160
Natural variant160 – 1612MA → IS in sporadic cancers; somatic mutation.
VAR_047161
Natural variant160 – 1612MA → IT in a sporadic cancer; somatic mutation.
VAR_047162
Natural variant1601M → I in sporadic cancers; somatic mutation.
VAR_005908
Natural variant1601M → K in sporadic cancers; somatic mutation.
VAR_044857
Natural variant1601M → T in a sporadic cancer; somatic mutation.
VAR_044858
Natural variant1601M → V in sporadic cancers; somatic mutation.
VAR_044859
Natural variant1611A → D in sporadic cancers; somatic mutation.
VAR_044860
Natural variant1611A → F in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045800
Natural variant1611A → G in sporadic cancers; somatic mutation.
VAR_044861
Natural variant1611A → P in sporadic cancers; somatic mutation.
VAR_044862
Natural variant1611A → S in sporadic cancers; somatic mutation.
VAR_005909
Natural variant1611A → T in sporadic cancers; somatic mutation.
VAR_044863
Natural variant1611A → V in sporadic cancers; somatic mutation.
VAR_044864
Natural variant1621I → F in sporadic cancers; somatic mutation.
VAR_044865
Natural variant1621I → M in sporadic cancers; somatic mutation.
VAR_044866
Natural variant1621I → N in a breast cancer with no family history; germline mutation and in sporadic cancers; somatic mutation.
VAR_044867
Natural variant1621I → S in sporadic cancers; somatic mutation.
VAR_005910
Natural variant1621I → T in sporadic cancers; somatic mutation.
VAR_044868
Natural variant1621I → V in sporadic cancers; somatic mutation.
VAR_005911
Natural variant1631Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. Ref.188 Ref.189
VAR_033035
Natural variant1631Y → D in sporadic cancers; somatic mutation.
VAR_044869
Natural variant1631Y → F in a sporadic cancer; somatic mutation.
VAR_044870
Natural variant1631Y → H in sporadic cancers; somatic mutation.
VAR_005912
Natural variant1631Y → N in sporadic cancers; somatic mutation.
VAR_044871
Natural variant1631Y → S in sporadic cancers; somatic mutation.
VAR_044872
Natural variant1641K → E in sporadic cancers; somatic mutation.
VAR_044873
Natural variant1641K → M in sporadic cancers; somatic mutation.
VAR_044874
Natural variant1641K → N in sporadic cancers; somatic mutation.
VAR_005913
Natural variant1641K → Q in sporadic cancers; somatic mutation.
VAR_005914
Natural variant1641K → R in sporadic cancers; somatic mutation.
VAR_044875
Natural variant1641K → T in sporadic cancers; somatic mutation.
VAR_044876
Natural variant1651Q → E in sporadic cancers; somatic mutation.
VAR_044877
Natural variant1651Q → H in a sporadic cancer; somatic mutation.
VAR_044878
Natural variant1651Q → L in sporadic cancers; somatic mutation.
VAR_005915
Natural variant1651Q → P in sporadic cancers; somatic mutation.
VAR_044879
Natural variant1651Q → R in sporadic cancers; somatic mutation.
VAR_005916
Natural variant1661S → A in sporadic cancers; somatic mutation.
VAR_044880
Natural variant1661S → G in a sporadic cancer; somatic mutation.
VAR_044881
Natural variant1661S → L in sporadic cancers; somatic mutation.
VAR_005917
Natural variant1661S → P in sporadic cancers; somatic mutation.
VAR_044882
Natural variant1661S → T in sporadic cancers; somatic mutation.
VAR_044883
Natural variant167 – 1682QH → HD in a sporadic cancer; somatic mutation.
VAR_047163
Natural variant167 – 1682QH → YL in a sporadic cancer; somatic mutation.
VAR_047164
Natural variant1671Q → H in sporadic cancers; somatic mutation.
VAR_044884
Natural variant1671Q → K in LFS; germline mutation and in a sporadic cancer; somatic mutation.
VAR_044885
Natural variant1671Q → L in sporadic cancers; somatic mutation.
VAR_044886
Natural variant1671Q → R in sporadic cancers; somatic mutation.
VAR_044887
Natural variant168 – 1692HM → LI in a sporadic cancer; somatic mutation.
VAR_047165
Natural variant1681H → D in sporadic cancers; somatic mutation.
VAR_044888
Natural variant1681H → L in sporadic cancers; somatic mutation.
VAR_044889
Natural variant1681H → N in sporadic cancers; somatic mutation.
VAR_044890
Natural variant1681H → P in sporadic cancers; somatic mutation.
VAR_044891
Natural variant1681H → Q in sporadic cancers; somatic mutation.
VAR_044892
Natural variant1681H → R in sporadic cancers; somatic mutation.
VAR_005918
Natural variant1681H → V in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045801
Natural variant1681H → Y in sporadic cancers; somatic mutation.
VAR_044893
Natural variant169 – 1702MT → IS in a sporadic cancer; somatic mutation.
VAR_047166
Natural variant1691M → I in sporadic cancers; somatic mutation.
VAR_005919
Natural variant1691M → K in sporadic cancers; somatic mutation.
VAR_044894
Natural variant1691M → T in sporadic cancers; somatic mutation.
VAR_005920
Natural variant1691M → V in sporadic cancers; somatic mutation.
VAR_044895
Natural variant1701T → A in sporadic cancers; somatic mutation.
VAR_044896
Natural variant1701T → K in a sporadic cancer; somatic mutation.
VAR_044897
Natural variant1701T → M in sporadic cancers; somatic mutation.
VAR_005921
Natural variant1701T → P in a sporadic cancer; somatic mutation.
VAR_044898
Natural variant1701T → S in sporadic cancers; somatic mutation.
VAR_005922
Natural variant1711E → A in a sporadic cancer; somatic mutation.
VAR_044899
Natural variant1711E → D in sporadic cancers; somatic mutation.
VAR_044900
Natural variant1711E → G in sporadic cancers; somatic mutation.
VAR_044901
Natural variant1711E → K in sporadic cancers; somatic mutation.
VAR_044902
Natural variant1711E → Q in a sporadic cancer; somatic mutation.
VAR_044903
Natural variant1711E → V in sporadic cancers; somatic mutation.
VAR_044904
Natural variant1721V → A in sporadic cancers; somatic mutation.
VAR_005923
Natural variant1721V → D in sporadic cancers; somatic mutation.
VAR_044905
Natural variant1721V → F in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044906
Natural variant1721V → G in sporadic cancers; somatic mutation.
VAR_044907
Natural variant1721V → I in sporadic cancers; somatic mutation.
VAR_044908
Natural variant1731V → A in sporadic cancers; somatic mutation.
VAR_044909
Natural variant1731V → E in sporadic cancers; somatic mutation.
VAR_005924
Natural variant1731V → G in sporadic cancers; somatic mutation.
VAR_044910
Natural variant1731V → L in sporadic cancers; somatic mutation.
VAR_005925
Natural variant1731V → M in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005926
Natural variant1731V → W in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045802
Natural variant1741R → G in LFS; germline mutation and in a sporadic cancer; somatic mutation.
VAR_044911
Natural variant1741R → K in sporadic cancers; somatic mutation.
VAR_005927
Natural variant1741R → M in sporadic cancers; somatic mutation.
VAR_044912
Natural variant1741R → S in sporadic cancers; somatic mutation.
VAR_044913
Natural variant1741R → T in a sporadic cancer; somatic mutation.
VAR_044914
Natural variant1741R → W in sporadic cancers; somatic mutation.
VAR_044915
Natural variant1751R → C in sporadic cancers; somatic mutation.
VAR_005928
Natural variant1751R → G in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005929
Natural variant1751R → H in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A. Ref.86 Ref.112 Ref.162 Ref.176 Ref.178 Ref.188
Corresponds to variant rs28934578 [ dbSNP | Ensembl ].
VAR_005932
Natural variant1751R → L in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005930
Natural variant1751R → P in sporadic cancers; somatic mutation.
VAR_005931
Natural variant1751R → Q in a sporadic cancer; somatic mutation.
VAR_044916
Natural variant1751R → S in sporadic cancers; somatic mutation.
VAR_044917
Natural variant176 – 1772CP → FS in a sporadic cancer; somatic mutation.
VAR_047167
Natural variant1761C → F in sporadic cancers; somatic mutation.
VAR_005933
Natural variant1761C → G in sporadic cancers; somatic mutation.
VAR_044918
Natural variant1761C → R in sporadic cancers; somatic mutation.
VAR_044919
Natural variant1761C → S in sporadic cancers; somatic mutation.
VAR_044920
Natural variant1761C → W in sporadic cancers; somatic mutation.
VAR_005934
Natural variant1761C → Y in sporadic cancers; somatic mutation.
VAR_044921
Natural variant1771P → A in a sporadic cancer; somatic mutation.
VAR_044922
Natural variant1771P → F in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions.
VAR_045803
Natural variant1771P → H in sporadic cancers; somatic mutation.
VAR_044923
Natural variant1771P → I in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045804
Natural variant1771P → L in sporadic cancers; somatic mutation.
VAR_005935
Natural variant1771P → R in sporadic cancers; somatic mutation.
VAR_036505
Natural variant1771P → S in sporadic cancers; somatic mutation.
VAR_044924
Natural variant1771P → T in a sporadic cancer; somatic mutation.
VAR_044925
Natural variant178 – 1792HH → QS in a sporadic cancer; somatic mutation.
VAR_047168
Natural variant1781H → D in sporadic cancers; somatic mutation.
VAR_044926
Natural variant1781H → HPHP in a Burkitt lymphoma. Ref.168
VAR_005936
Natural variant1781H → L in a sporadic cancer; somatic mutation.
VAR_044927
Natural variant1781H → N in sporadic cancers; somatic mutation.
VAR_044928
Natural variant1781H → P in sporadic cancers; somatic mutation.
VAR_044929
Natural variant1781H → Q in sporadic cancers; somatic mutation.
VAR_044930
Natural variant1781H → R in sporadic cancers; somatic mutation.
VAR_044931
Natural variant1781H → Y in sporadic cancers; somatic mutation.
VAR_044932
Natural variant1791H → D in sporadic cancers; somatic mutation.
VAR_044933
Natural variant1791H → L in sporadic cancers; somatic mutation.
VAR_044934
Natural variant1791H → N in sporadic cancers; somatic mutation.
VAR_044935
Natural variant1791H → P in sporadic cancers; somatic mutation.
VAR_044936
Natural variant1791H → Q in sporadic cancers; somatic mutation.
VAR_044937
Natural variant1791H → R in sporadic cancers; somatic mutation.
VAR_044938
Natural variant1791H → Y in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044939
Natural variant1801E → A in a sporadic cancer; somatic mutation.
VAR_044940
Natural variant1801E → D in sporadic cancers; somatic mutation.
VAR_044941
Natural variant1801E → G in a sporadic cancer; somatic mutation.
VAR_044942
Natural variant1801E → K in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044943
Natural variant1801E → Q in sporadic cancers; somatic mutation.
VAR_044944
Natural variant1801E → V in a sporadic cancer; somatic mutation.
VAR_044945
Natural variant1811R → C in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044946
Natural variant1811R → G in sporadic cancers; somatic mutation.
VAR_044947
Natural variant1811R → H in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044948
Natural variant1811R → L in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005937
Natural variant1811R → P in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044949
Natural variant1811R → S in sporadic cancers; somatic mutation.
VAR_044950
Natural variant1821C → R in sporadic cancers; somatic mutation.
VAR_044951
Natural variant1821C → S in sporadic cancers; somatic mutation.
VAR_005938
Natural variant1821C → Y in sporadic cancers; somatic mutation.
VAR_044952
Natural variant1831S → L in sporadic cancers; somatic mutation.
VAR_044953
Natural variant1831S → P in sporadic cancers; somatic mutation.
VAR_044954
Natural variant1841D → G in sporadic cancers; somatic mutation.
VAR_044955
Natural variant1841D → H in sporadic cancers; somatic mutation.
VAR_044956
Natural variant1841D → N in sporadic cancers; somatic mutation.
VAR_047169
Natural variant1841D → V in sporadic cancers; somatic mutation.
VAR_044957
Natural variant1841D → Y in sporadic cancers; somatic mutation.
VAR_005939
Natural variant1851S → C in a sporadic cancer; somatic mutation.
VAR_044958
Natural variant1851S → G in sporadic cancers; somatic mutation.
VAR_044959
Natural variant1851S → I in sporadic cancers; somatic mutation.
VAR_044960
Natural variant1851S → N in a sporadic cancer; somatic mutation.
VAR_044961
Natural variant1851S → R in sporadic cancers; somatic mutation.
VAR_044962
Natural variant1851S → T in a sporadic cancer; somatic mutation.
VAR_044963
Natural variant1861D → E in a sporadic cancer; somatic mutation.
VAR_044964
Natural variant1861D → G in sporadic cancers; somatic mutation.
VAR_044965
Natural variant1861D → H in sporadic cancers; somatic mutation.
VAR_044966
Natural variant1861D → N in sporadic cancers; somatic mutation.
VAR_044967
Natural variant1861D → V in sporadic cancers; somatic mutation.
VAR_044968
Natural variant1861D → Y in a sporadic cancer; somatic mutation.
VAR_005940
Natural variant1871G → C in sporadic cancers; somatic mutation.
VAR_005941
Natural variant1871G → D in sporadic cancers; somatic mutation.
VAR_044969
Natural variant1871G → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045805
Natural variant1871G → R in sporadic cancers; somatic mutation.
VAR_044970
Natural variant1871G → S in sporadic cancers; somatic mutation.
VAR_005942
Natural variant1871G → V in sporadic cancers; somatic mutation.
VAR_044971
Natural variant1881L → P in a sporadic cancer; somatic mutation.
VAR_044972
Natural variant1881L → V in sporadic cancers; somatic mutation.
VAR_044973
Natural variant1891A → D in a sporadic cancer; somatic mutation.
VAR_044974
Natural variant1891A → G in sporadic cancers; somatic mutation.
VAR_044975
Natural variant1891A → P in sporadic cancers; somatic mutation.
VAR_005943
Natural variant1891A → S in a sporadic cancer; somatic mutation.
VAR_044976
Natural variant1891A → T in sporadic cancers; somatic mutation.
VAR_044977
Natural variant1891A → V in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_044978
Natural variant1901P → A in sporadic cancers; somatic mutation.
VAR_044979
Natural variant1901P → H in a sporadic cancer; somatic mutation.
VAR_044980
Natural variant1901P → L in sporadic cancers; somatic mutation.
VAR_005944
Natural variant1901P → R in sporadic cancers; somatic mutation.
VAR_044981
Natural variant1901P → S in sporadic cancers; somatic mutation.
VAR_044982
Natural variant1901P → T in sporadic cancers; somatic mutation.
VAR_044983
Natural variant1911P → H in sporadic cancers; somatic mutation.
VAR_044984
Natural variant1911P → L in sporadic cancers; somatic mutation.
VAR_044985
Natural variant1911P → R in sporadic cancers; somatic mutation.
VAR_044986
Natural variant1911P → S in sporadic cancers; somatic mutation.
VAR_044987
Natural variant1911P → T in sporadic cancers; somatic mutation.
VAR_005945
Natural variant192 – 1932QH → HN in a sporadic cancer; somatic mutation.
VAR_047170
Natural variant192 – 1932QH → HY in a sporadic cancer; somatic mutation.
VAR_047171
Natural variant1921Q → H in sporadic cancers; somatic mutation.
VAR_044988
Natural variant1921Q → K in a sporadic cancer; somatic mutation.
VAR_044989
Natural variant1921Q → L in sporadic cancers; somatic mutation.
VAR_044990
Natural variant1921Q → P in sporadic cancers; somatic mutation.
VAR_044991
Natural variant1921Q → R in sporadic cancers; somatic mutation.
VAR_005946
Natural variant1931H → D in sporadic cancers; somatic mutation.
VAR_005947
Natural variant1931H → L in sporadic cancers; somatic mutation.
VAR_044992
Natural variant1931H → N in sporadic cancers; somatic mutation.
VAR_044993
Natural variant1931H → P in sporadic cancers; somatic mutation.
VAR_044994
Natural variant1931H → Q in sporadic cancers; somatic mutation.
VAR_044995
Natural variant1931H → R in LFS; germline mutation and in sporadic cancers; somatic mutation. Ref.176 Ref.188
VAR_005948
Natural variant1931H → Y in sporadic cancers; somatic mutation.
VAR_044996
Natural variant1941L → F in sporadic cancers; somatic mutation.
VAR_044997
Natural variant1941L → H in sporadic cancers; somatic mutation.
VAR_044998
Natural variant1941L → I in sporadic cancers; somatic mutation.
VAR_044999
Natural variant1941L → P in sporadic cancers; somatic mutation.
VAR_005949
Natural variant1941L → R in sporadic cancers; somatic mutation.
VAR_005950
Natural variant1941L → V in sporadic cancers; somatic mutation.
VAR_045000
Natural variant1951I → F in sporadic cancers; somatic mutation.
VAR_045001
Natural variant1951I → L in a sporadic cancer; somatic mutation.
VAR_047172
Natural variant1951I → N in sporadic cancers; somatic mutation.
VAR_045002
Natural variant1951I → S in sporadic cancers; somatic mutation.
VAR_045003
Natural variant1951I → T in sporadic cancers; somatic mutation.
VAR_005951
Natural variant1951I → V in a sporadic cancer; somatic mutation.
VAR_045004
Natural variant1951I → Y in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045806
Natural variant1961R → G in sporadic cancers; somatic mutation.
VAR_045005
Natural variant1961R → L in sporadic cancers; somatic mutation.
VAR_045006
Natural variant1961R → P in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_045007
Natural variant1961R → Q in sporadic cancers; somatic mutation.
VAR_045008
Natural variant1961R → S in a sporadic cancer; somatic mutation.
VAR_045009
Natural variant1971V → E in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_045010
Natural variant1971V → G in sporadic cancers; somatic mutation.
VAR_045011
Natural variant1971V → L in sporadic cancers; somatic mutation.
VAR_045012
Natural variant1971V → M in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_045013
Natural variant1981E → D in a sporadic cancer; somatic mutation.
VAR_045014
Natural variant1981E → G in sporadic cancers; somatic mutation.
VAR_045015
Natural variant1981E → K in sporadic cancers; somatic mutation.
VAR_005952
Natural variant1981E → Q in sporadic cancers; somatic mutation.
VAR_045016
Natural variant1981E → V in a sporadic cancer; somatic mutation.
VAR_045017
Natural variant1991G → A in a sporadic cancer; somatic mutation.
VAR_045018
Natural variant1991G → E in sporadic cancers; somatic mutation.
VAR_045019
Natural variant1991G → R in sporadic cancers; somatic mutation.
VAR_045020
Natural variant1991G → V in sporadic cancers; somatic mutation.
VAR_045021
Natural variant2001N → D in sporadic cancers; somatic mutation.
VAR_045022
Natural variant2001N → I in sporadic cancers; somatic mutation.
VAR_045023
Natural variant2001N → K in a sporadic cancer; somatic mutation.
VAR_045024
Natural variant2001N → P in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045807
Natural variant2001N → S in sporadic cancers; somatic mutation.
VAR_045025
Natural variant2001N → T in a sporadic cancer; somatic mutation.
VAR_045026
Natural variant201 – 2022LR → FC in a sporadic cancer; somatic mutation.
VAR_047173
Natural variant2011L → F in sporadic cancers; somatic mutation.
VAR_045027
Natural variant2011L → P in a sporadic cancer; somatic mutation.
VAR_045028
Natural variant2011L → S in a sporadic cancer; somatic mutation.
VAR_045029
Natural variant2021R → C in sporadic cancers; somatic mutation.
VAR_045030
Natural variant2021R → G in sporadic cancers; somatic mutation.
VAR_045031
Natural variant2021R → H in sporadic cancers; somatic mutation.
VAR_045032
Natural variant2021R → L in sporadic cancers; somatic mutation.
VAR_045033
Natural variant2021R → P in sporadic cancers; somatic mutation.
VAR_045034
Natural variant2021R → S in sporadic cancers; somatic mutation.
VAR_045035
Natural variant203 – 2042VE → LV in a sporadic cancer; somatic mutation.
VAR_047174
Natural variant2031V → A in sporadic cancers; somatic mutation.
VAR_045036
Natural variant2031V → E in sporadic cancers; somatic mutation.
VAR_045037
Natural variant2031V → L in sporadic cancers; somatic mutation.
VAR_045038
Natural variant2031V → M in sporadic cancers; somatic mutation.
VAR_045039
Natural variant2031V → W in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045808
Natural variant2041E → A in sporadic cancers; somatic mutation.
VAR_045040
Natural variant2041E → D in sporadic cancers; somatic mutation.
VAR_045041
Natural variant2041E → G in sporadic cancers; somatic mutation.
VAR_045042
Natural variant2041E → K in sporadic cancers; somatic mutation.
VAR_045043
Natural variant2041E → Q in a sporadic cancer; somatic mutation.
VAR_045044
Natural variant2041E → V in a sporadic cancer; somatic mutation.
VAR_045045
Natural variant2051Y → C in sporadic cancers; somatic mutation.
VAR_005953
Natural variant2051Y → D in sporadic cancers; somatic mutation.
VAR_005954
Natural variant2051Y → F in sporadic cancers; somatic mutation.
VAR_047175
Natural variant2051Y → H in sporadic cancers; somatic mutation.
VAR_045046
Natural variant2051Y → N in sporadic cancers; somatic mutation.
VAR_045047
Natural variant2051Y → S in sporadic cancers; somatic mutation.
VAR_045048
Natural variant2061L → F in a sporadic cancer; somatic mutation.
VAR_045049
Natural variant2061L → M in a sporadic cancer; somatic mutation.
VAR_045050
Natural variant207 – 2082DD → EY in a sporadic cancer; somatic mutation.
VAR_047176
Natural variant2071D → E in sporadic cancers; somatic mutation.
VAR_045051
Natural variant2071D → G in sporadic cancers; somatic mutation.
VAR_045052
Natural variant2071D → H in sporadic cancers; somatic mutation.
VAR_045053
Natural variant2071D → N in sporadic cancers; somatic mutation.
VAR_045054
Natural variant2071D → V in a sporadic cancer; somatic mutation.
VAR_045055
Natural variant2071D → Y in a sporadic cancer; somatic mutation.
VAR_045056
Natural variant2081D → E in sporadic cancers; somatic mutation.
VAR_045057
Natural variant2081D → G in sporadic cancers; somatic mutation.
VAR_045058
Natural variant2081D → H in a sporadic cancer; somatic mutation.
VAR_045059
Natural variant2081D → I in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045809
Natural variant2081D → N in sporadic cancers; somatic mutation.
VAR_045060
Natural variant2081D → V in sporadic cancers; somatic mutation.
VAR_045061
Natural variant2081D → Y in a sporadic cancer; somatic mutation.
VAR_045062
Natural variant2091R → I in sporadic cancers; somatic mutation.
VAR_045063
Natural variant2091R → K in sporadic cancers; somatic mutation.
VAR_045064
Natural variant2091R → S in a sporadic cancer; somatic mutation.
VAR_045065
Natural variant2091R → T in sporadic cancers; somatic mutation.
VAR_045066
Natural variant2101N → D in sporadic cancers; somatic mutation.
VAR_045067
Natural variant2101N → H in sporadic cancers; somatic mutation.
VAR_045068
Natural variant2101N → I in a sporadic cancer; somatic mutation.
VAR_045069
Natural variant2101N → K in a sporadic cancer; somatic mutation.
VAR_045070
Natural variant2101N → S in sporadic cancers; somatic mutation.
VAR_045071
Natural variant2101N → T in a sporadic cancer; somatic mutation.
VAR_045072
Natural variant2101N → Y in a familial cancer not matching LFS; germline mutation.
VAR_045073
Natural variant2111T → A in sporadic cancers; somatic mutation.
VAR_045074
Natural variant2111T → I in sporadic cancers; somatic mutation.
VAR_045075
Natural variant2111T → N in sporadic cancers; somatic mutation.
VAR_045076
Natural variant2111T → P in a sporadic cancer; somatic mutation.
VAR_045077
Natural variant2111T → S in sporadic cancers; somatic mutation.
VAR_045078
Natural variant2121F → I in sporadic cancers; somatic mutation.
VAR_045079
Natural variant2121F → L in sporadic cancers; somatic mutation.
VAR_045080
Natural variant2121F → S in sporadic cancers; somatic mutation.
VAR_045081
Natural variant2121F → V in a sporadic cancer; somatic mutation.
VAR_045082
Natural variant2121F → Y in sporadic cancers; somatic mutation.
VAR_045083
Natural variant2131R → G in sporadic cancers; somatic mutation.
VAR_045084
Natural variant2131R → L in sporadic cancers; somatic mutation.
VAR_045085
Natural variant2131R → P in LFS; germline mutation and in sporadic cancers; somatic mutation. Ref.188
VAR_036506
Natural variant2131R → Q in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005955
Natural variant2131R → W in sporadic cancers; somatic mutation.
VAR_045086
Natural variant2141H → D in sporadic cancers; somatic mutation.
VAR_045087
Natural variant2141H → P in a sporadic cancer; somatic mutation.
VAR_045088
Natural variant2141H → Q in sporadic cancers; somatic mutation.
VAR_047177
Natural variant2141H → R in sporadic cancers; somatic mutation.
VAR_045089
Natural variant2141H → Y in sporadic cancers; somatic mutation.
VAR_045090
Natural variant2151S → C in sporadic cancers; somatic mutation.
VAR_045091
Natural variant2151S → G in sporadic cancers; somatic mutation.
VAR_045092
Natural variant2151S → I in sporadic cancers; somatic mutation.
VAR_045093
Natural variant2151S → K in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions.
VAR_045810
Natural variant2151S → N in sporadic cancers; somatic mutation.
VAR_045094
Natural variant2151S → R in sporadic cancers; somatic mutation.
VAR_045095
Natural variant2151S → T in sporadic cancers; somatic mutation.
VAR_045096
Natural variant2161V → A in sporadic cancers; somatic mutation.
VAR_045097
Natural variant2161V → E in sporadic cancers; somatic mutation.
VAR_045098
Natural variant2161V → G in sporadic cancers; somatic mutation.
VAR_045099
Natural variant2161V → L in sporadic cancers; somatic mutation.
VAR_045100
Natural variant2161V → M in sporadic cancers; somatic mutation.
VAR_005956
Natural variant2161V → W in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045811
Natural variant2171V → A in sporadic cancers; somatic mutation.
VAR_045101
Natural variant2171V → E in sporadic cancers; somatic mutation.
VAR_045102
Natural variant2171V → G in sporadic cancers; somatic mutation.
VAR_045103
Natural variant2171V → I in a sporadic cancer; somatic mutation.
VAR_045104
Natural variant2171V → L in sporadic cancers; somatic mutation.
VAR_045105
Natural variant2171V → M.
Corresponds to variant rs35163653 [ dbSNP | Ensembl ].
VAR_047178
Natural variant2181V → A in sporadic cancers; somatic mutation.
VAR_045106
Natural variant2181V → E in sporadic cancers; somatic mutation.
VAR_045107
Natural variant2181V → G in sporadic cancers; somatic mutation.
VAR_045108
Natural variant2181V → L in sporadic cancers; somatic mutation.
VAR_045109
Natural variant2181V → M in sporadic cancers; somatic mutation.
VAR_045110
Natural variant2191P → C in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045812
Natural variant2191P → H in a sporadic cancer; somatic mutation.
VAR_045111
Natural variant2191P → L in sporadic cancers; somatic mutation.
VAR_045112
Natural variant2191P → R in a sporadic cancer; somatic mutation.
VAR_045113
Natural variant2191P → S in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_045114
Natural variant2191P → T in sporadic cancers; somatic mutation.
VAR_045115
Natural variant2201Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation. Ref.150 Ref.171 Ref.182
VAR_005957
Natural variant2201Y → D in sporadic cancers; somatic mutation.
VAR_045116
Natural variant2201Y → F in a sporadic cancer; somatic mutation.
VAR_045117
Natural variant2201Y → H in sporadic cancers; somatic mutation.
VAR_005958
Natural variant2201Y → N in sporadic cancers; somatic mutation.
VAR_045118
Natural variant2201Y → S in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation.
VAR_005959
Natural variant2211E → A in sporadic cancers; somatic mutation.
VAR_045119
Natural variant2211E → D in sporadic cancers; somatic mutation.
VAR_045120
Natural variant2211E → G in sporadic cancers; somatic mutation.
VAR_045121
Natural variant2211E → K in sporadic cancers; somatic mutation.
VAR_045122
Natural variant2211E → Q in sporadic cancers; somatic mutation.
VAR_045123
Natural variant2221P → A in a sporadic cancer; somatic mutation.
VAR_045124
Natural variant2221P → L in sporadic cancers; somatic mutation.
VAR_045125
Natural variant2221P → Q in sporadic cancers; somatic mutation.
VAR_045126
Natural variant2221P → R in a sporadic cancer; somatic mutation.
VAR_045127
Natural variant2221P → S in sporadic cancers; somatic mutation.
VAR_045128
Natural variant2221P → T in sporadic cancers; somatic mutation.
VAR_045129
Natural variant2231P → A in a sporadic cancer; somatic mutation.
VAR_047179
Natural variant2231P → H in sporadic cancers; somatic mutation.
VAR_045130
Natural variant2231P → L in sporadic cancers; somatic mutation.
VAR_045131
Natural variant2231P → R in a sporadic cancer; somatic mutation.
VAR_045132
Natural variant2231P → S in a sporadic cancer; somatic mutation.
VAR_045133
Natural variant2231P → T in a sporadic cancer; somatic mutation.
VAR_045134
Natural variant2241E → D in sporadic cancers; somatic mutation.
VAR_045135
Natural variant2241E → G in sporadic cancers; somatic mutation.
VAR_045136
Natural variant2241E → K in sporadic cancers; somatic mutation.
VAR_045137
Natural variant2241E → V in a sporadic cancer; somatic mutation.
VAR_045138
Natural variant2251V → A in sporadic cancers; somatic mutation.
VAR_045139
Natural variant2251V → D in a sporadic cancer; somatic mutation.
VAR_045140
Natural variant2251V → F in sporadic cancers; somatic mutation.
VAR_045141
Natural variant2251V → G in a sporadic cancer; somatic mutation.
VAR_045142
Natural variant2251V → I in sporadic cancers; somatic mutation.
VAR_045143
Natural variant2251V → L in a sporadic cancer; somatic mutation.
VAR_045144
Natural variant2261G → A in sporadic cancers; somatic mutation.
VAR_045145
Natural variant2261G → D in sporadic cancers; somatic mutation.
VAR_047180
Natural variant2261G → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045844
Natural variant2261G → S in sporadic cancers; somatic mutation.
VAR_045146
Natural variant2261G → V in sporadic cancers; somatic mutation.
VAR_045147
Natural variant2271S → C in sporadic cancers; somatic mutation.
VAR_045148
Natural variant2271S → F in sporadic cancers; somatic mutation.
VAR_045149
Natural variant2271S → P in a sporadic cancer; somatic mutation.
VAR_045150
Natural variant2271S → T in LFS; germline mutation and in a sporadic cancer; somatic mutation.
VAR_045151
Natural variant2281D → A in sporadic cancers; somatic mutation.
VAR_045152
Natural variant2281D → E in sporadic cancers; somatic mutation.
VAR_005960
Natural variant2281D → G in sporadic cancers; somatic mutation.
VAR_045153
Natural variant2281D → H in sporadic cancers; somatic mutation.
VAR_045154
Natural variant2281D → N in sporadic cancers; somatic mutation.
VAR_045155
Natural variant2281D → P in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045845
Natural variant2281D → V in sporadic cancers; somatic mutation.
VAR_045156
Natural variant2281D → Y in sporadic cancers; somatic mutation.
VAR_045157
Natural variant2291C → G in a sporadic cancer; somatic mutation.
VAR_045158
Natural variant2291C → N in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045846
Natural variant2291C → R in sporadic cancers; somatic mutation.
VAR_045159
Natural variant2291C → S in sporadic cancers; somatic mutation.
VAR_045160
Natural variant2291C → Y in sporadic cancers; somatic mutation.
VAR_045161
Natural variant2301T → A in sporadic cancers; somatic mutation.
VAR_045162
Natural variant2301T → I in sporadic cancers; somatic mutation.
VAR_005961
Natural variant2301T → N in sporadic cancers; somatic mutation.
VAR_045163
Natural variant2301T → P in sporadic cancers; somatic mutation.
VAR_045164
Natural variant2301T → S in sporadic cancers; somatic mutation.
VAR_045165
Natural variant2311T → A in sporadic cancers; somatic mutation.
VAR_045166
Natural variant2311T → I in sporadic cancers; somatic mutation.
VAR_045167
Natural variant2311T → N in sporadic cancers; somatic mutation.
VAR_045168
Natural variant2311T → S in sporadic cancers; somatic mutation.
VAR_045169
Natural variant2321I → F in sporadic cancers; somatic mutation.
VAR_045170
Natural variant2321I → L in sporadic cancers; somatic mutation.
VAR_045171
Natural variant2321I → N in sporadic cancers; somatic mutation.
VAR_045172
Natural variant2321I → S in sporadic cancers; somatic mutation; does not induce SNAI1 degradation.
VAR_045173
Natural variant2321I → T in sporadic cancers; somatic mutation.
VAR_005962
Natural variant2321I → V in sporadic cancers; somatic mutation.
VAR_045174
Natural variant2331H → D in LFS; germline mutation and in a sporadic cancer; somatic mutation.
VAR_045175
Natural variant2331H → L in sporadic cancers; somatic mutation.
VAR_045176
Natural variant2331H → P in a sporadic cancer; somatic mutation.
VAR_045177
Natural variant2331H → Q in sporadic cancers; somatic mutation.
VAR_045178
Natural variant2331H → R in sporadic cancers; somatic mutation.
VAR_047181
Natural variant2331H → Y in sporadic cancers; somatic mutation.
VAR_045179
Natural variant2341Y → C in LFS; germline mutation and in sporadic cancers; somatic mutation.
VAR_005963
Natural variant2341Y → D in sporadic cancers; somatic mutation.
VAR_045180
Natural variant2341Y → F in a sporadic cancer; somatic mutation.
VAR_045181
Natural variant2341Y → H in sporadic cancers; somatic mutation.
VAR_005964
Natural variant2341Y → K in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045847
Natural variant2341Y → N in sporadic cancers; somatic mutation.
VAR_045182
Natural variant2341Y → Q in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045848
Natural variant2341Y → S in sporadic cancers; somatic mutation.
VAR_045183
Natural variant2351N → D in an adrenocortical carcinoma with no family history; germline mutation and in sporadic cancers; somatic mutation.
VAR_047182
Natural variant2351N → H in a sporadic cancer; somatic mutation.
VAR_045184
Natural variant2351N → I in sporadic cancers; somatic mutation.
VAR_045185
Natural variant2351N → M in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions.
VAR_045849
Natural variant2351N → S in LFS; germline mutation and in sporadic cancers; somatic mutat