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Reviewed, UniProtKB/Swiss-Prot P04637 (P53_HUMAN)

Last modified July 7, 2009. Version 161. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

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

Protein attributes

Sequence length393 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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. Implicated in Notch signaling cross-over. Ref.50

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 P53DINP1. 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 and E4F1. Interacts with YWHAZ; the interaction enhances P53 transcriptional activity. Phosphorylation of YWHAZ on 'Ser-58' inhibits this interaction. Interacts (via DNA-binding domain) with MAML1 (via N-terminus).

Subcellular location

Cytoplasm. Nucleus. Endoplasmic reticulum. Note: Interaction with BANP promotes nuclear localization. Ref.36 Ref.53 Ref.59

Domain

The nuclear export signal acts as a transcriptional repression domain. Ref.35

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.

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, which may prevent the interaction with MDM2. Phosphorylated on Thr-55 by TAF1, which promotes MDM2-mediated degradation. 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 upon DNA damage, probably by ATM or ATR. Phosphorylated on Ser-15 upon ultraviolet irradiation; which is enhanced by interaction with BANP.

Dephosphorylated by PP2A. SV40 small T antigen inhibits the dephosphorylation by the AC form of PP2A. Ref.53 Ref.24 Ref.26 Ref.32 Ref.37 Ref.38 Ref.42 Ref.43 Ref.51 Ref.55 Ref.61 Ref.64 Ref.65

May be O-glycosylated in the C-terminal basic region. Studied in EB-1 cell line. Ref.28

Ubiquitinated by SYVN1, which leads to proteasomal degradation. Ref.59

Monomethylated at Lys-372 by SETD7, leading to stabilize it and increase transcriptional activation. Monomethylated at Lys-370 by SMYD2, leading to decrease DNA-binding activity and subsequent transcriptional regulation activity. Lys-372 monomethylation prevents the interaction with SMYD2 and subsequenct monomethylation at Lys-370. Ref.52 Ref.57 Ref.58

Sumoylated by SUMO1. Ref.36 Ref.29

Demethylation of di-methylated Lys-370 by KDM1/LSD1 prevents interaction with TP53BP1 and represses TP53-mediated transcriptional activation.

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.

Defects in TP53 are involved in esophageal squamous cell carcinoma (ESCC) [MIM:133239]. ESCC is a tumor of the esophagus.

Defects in TP53 are a cause of Li-Fraumeni syndrome (LFS) [MIM:151623]. LFS is an 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 (Ref.101 and Ref.104) 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. Ref.80 Ref.81 Ref.82 Ref.83 Ref.84 Ref.103 Ref.105 Ref.110 Ref.111

Defects in TP53 may be associated with nasopharyngeal carcinoma [MIM:161550]; also known as nasopharyngeal cancer.

Defects in TP53 are found in Barrett metaplasia; also known as Barrett esophagus. It is 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.

Defects in TP53 are involved in head and neck squamous cell carcinomas (HNSCC) [MIM:275355].

Defects in TP53 are involved in oral squamous cell carcinoma (OSCC). Cigarette smoke is a prime mutagenic agent in cancer of the aerodigestive tract.

Defects in TP53 are a cause of lung cancer [MIM:211980].

Defects in TP53 are a cause of choroid plexus papilloma [MIM:260500]. Choroid plexus papilloma is a slow-growing benign tumor of the choroid plexus that often invades the leptomeninges. In children it is usually in a lateral ventricle but in adults it is more often in the fourth ventricle. Hydrocephalus is common, either from obstruction or from tumor secretion of cerebrospinal fluid. If it undergoes malignant transformation it is called a choroid plexus carcinoma. Primary choroid plexus tumors are rare and usually occur in early childhood. Ref.114

Defects in TP53 are a cause of one form of hereditary adrenocortical carcinoma (ADCC) [MIM:202300]. ADCC is a rare childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome [MIM:130650] and is a component tumor in Li-Fraumeni syndrome [MIM:151623]. Ref.113

Sequence similarities

Belongs to the p53 family.

Ontologies

Keywords
   Biological processApoptosis
Cell cycle
Host-virus interaction
Transcription
Transcription regulation
   Cellular componentCytoplasm
Endoplasmic reticulum
Nucleus
   Coding sequence diversityAlternative 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
Gene Ontology (GO)
   Biological processDNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis

Inferred from direct assay. Source: MGI

ER overload response

Inferred from direct assay. Source: MGI

RNA-protein covalent cross-linking

Inferred from electronic annotation. Source: UniProtKB-KW

activation of caspase activity by cytochrome c

Inferred from direct assay. Source: UniProtKB

base-excision repair

Traceable author statement. Source: UniProtKB

cell aging

Inferred from mutant phenotype. Source: UniProtKB

cell cycle arrest

Traceable author statement. Source: UniProtKB

cellular response to glucose starvation

Inferred from direct assay. Source: MGI

interspecies interaction between organisms

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of cell cycle

Inferred from electronic annotation. Source: UniProtKB-KW

negative regulation of cell growth

Inferred from mutant phenotype. Source: UniProtKB

negative regulation of helicase activity

Traceable author statement. Source: UniProtKB

nucleotide-excision repair

Inferred from mutant phenotype. Source: UniProtKB

positive regulation of specific transcription from RNA polymerase II promoter Ref.34

Inferred from direct assay. Source: UniProtKB

protein tetramerization

Traceable author statement. Source: UniProtKB

regulation of mitochondrial membrane permeability

Traceable author statement. Source: UniProtKB

response to tumor cell

Inferred from electronic annotation. Source: InterPro

transcription

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentPML body

Inferred from direct assay. Source: UniProtKB

endoplasmic reticulum

Inferred from electronic annotation. Source: UniProtKB-SubCell

insoluble fraction

Inferred from direct assay. Source: UniProtKB

mitochondrion

Inferred from direct assay. Source: UniProtKB

nuclear matrix

Inferred from direct assay. Source: UniProtKB

nucleolus

Inferred from direct assay. Source: UniProtKB

   Molecular functionATP binding

Inferred from direct assay. Source: UniProtKB

DNA strand annealing activity

Inferred from direct assay. Source: UniProtKB

chaperone binding

Inferred from physical interaction. Source: UniProtKB

chromatin binding

Inferred from direct assay. Source: MGI

copper ion binding

Inferred from direct assay. Source: UniProtKB

enzyme binding

Inferred from physical interaction. Source: UniProtKB

protein N-terminus binding

Inferred from physical interaction. Source: UniProtKB

protein heterodimerization activity

Inferred from physical interaction. Source: UniProtKB

transcription factor activity

Inferred from direct assay. Source: UniProtKB

zinc ion binding

Traceable author statement. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

P030703EBI-366083,EBI-617698From a different organism.
Q9PST72EBI-366083,EBI-1782562From a different organism.
ATRQ135351EBI-366083,EBI-968983
BARD1Q997281EBI-366083,EBI-473181
Bard1O704451EBI-366083,EBI-1790207From a different organism.
BCL2L1Q07817-12EBI-366083,EBI-287195
BMXP518131EBI-366083,EBI-696657
BTBD2Q9BX701EBI-366083,EBI-710091
CABLES1Q8TDN41EBI-366083,EBI-604615
Cables1Q9ESJ11EBI-366083,EBI-604411From a different organism.
CEBPBP176763EBI-366083,EBI-969696
CREBBPQ927933EBI-366083,EBI-81215
CrebbpP454812EBI-366083,EBI-296306From a different organism.
CSE1LP550604EBI-366083,EBI-286709
CUL7Q149991EBI-366083,EBI-308606
CUL9Q8IWT31EBI-366083,EBI-311123
DAXXQ9UER73EBI-366083,EBI-77321
EP300Q094723EBI-366083,EBI-447295
FBXO11Q86XK23EBI-366083,EBI-1047804
GNL3Q9BVP21EBI-366083,EBI-641642
HDAC1Q135471EBI-366083,EBI-301834
HIPK1Q86Z021EBI-366083,EBI-692891
HMGB1P094291EBI-366083,EBI-389432
HNRNPUL1Q9BUJ26EBI-366083,EBI-1018153
HTATIPQ929931EBI-366083,EBI-399080
HTTP428582EBI-366083,EBI-466029
HUWE1Q7Z6Z72EBI-366083,EBI-625934
JMYQ8N9B51EBI-366083,EBI-866435
MAPK11Q157591EBI-366083,EBI-298304
MAPK11Q15759-21EBI-366083,EBI-303766
MAPKAPK5Q8IW411EBI-366083,EBI-1201460
MDM2Q009877EBI-366083,EBI-389668
mdm2P562731EBI-366083,EBI-541233From a different organism.
MDM4O151512EBI-366083,EBI-398437
NFYAP235112EBI-366083,EBI-389739
NPM1P067483EBI-366083,EBI-78579
NPM1P06748-11EBI-366083,EBI-354150
PARP1P098741EBI-366083,EBI-355676
PBKQ96KB52EBI-366083,EBI-536853
PIAS1O759251EBI-366083,EBI-629434
PIAS4Q8N2W91EBI-366083,EBI-473160
PMLP295901EBI-366083,EBI-295890
PPP1CCP36873-12EBI-366083,EBI-356289
PTK2Q053976EBI-366083,EBI-702142
RAD51Q066091EBI-366083,EBI-297202
RPA1P276941EBI-366083,EBI-621389
RPS27AP629881EBI-366083,EBI-413034
Rps27aP629911EBI-366083,EBI-413074From a different organism.
SETD7Q8WTS63EBI-366083,EBI-1268586
SIN3AQ96ST32EBI-366083,EBI-347218
TBPP202261EBI-366083,EBI-355371
TP53BP2Q136251EBI-366083,EBI-77642
UBE3AQ050861EBI-366083,EBI-954357
USP7Q930094EBI-366083,EBI-302474
WRNQ141912EBI-366083,EBI-368417
XRCC6P129561EBI-366083,EBI-353208
ZNF385AQ96PM91EBI-366083,EBI-1539778

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P04637-1)

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;

The sequence of this isoform differs from the canonical sequence as follows:
     332-341: IRGRERFEMF → DGTSFQKENC
     342-393: Missing.
Note: Seems to be non-functional. Expressed in quiescent lymphocytes.

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
Region116 – 292177Interaction with AXIN1 By similarity
Region241 – 2488Interacts with the 53BP2 SH3 domain
Region256 – 29439Interaction with E4F1
Region300 – 39394Interaction with CARM1
Region319 – 36042Interaction with HIPK2
Region325 – 35632Oligomerization
Region359 – 3635Interaction with USP7
Region368 – 38720Basic (repression of DNA-binding)
Motif305 – 32117Bipartite nuclear localization signal
Motif339 – 35012Nuclear export signal
Motif370 – 3723[KR]-[STA]-K motif

Sites

Metal binding1761Zinc
Metal binding1791Zinc
Metal binding2381Zinc
Metal binding2421Zinc

Amino acid modifications

Modified residue91Phosphoserine; by HIPK4 Ref.61
Modified residue151Phosphoserine; by PRPK Ref.53
Modified residue181Phosphothreonine; by VRK1 Ref.32
Modified residue461Phosphoserine; by HIPK2 Ref.42 Ref.43
Modified residue551Phosphothreonine; by TAF1 Ref.51
Modified residue991Phosphoserine Ref.65
Modified residue3051N6-acetyllysine Ref.45
Modified residue3151Phosphoserine; by CDC2 Ref.64
Modified residue3701N6-methyllysine Ref.57
Modified residue3721N6-methyllysine Ref.52 Ref.58
Modified residue3731N6-acetyllysine Ref.30
Modified residue3821N6-acetyllysine Ref.30 Ref.34
Modified residue3921Phosphoserine; by CK2 Ref.38 Ref.55
Cross-link386Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) Ref.36 Ref.29

Natural variations

Alternative sequence332 – 34110IRGRERFEMF → DGTSFQKENC in isoform 2.
VSP_006535
Alternative sequence342 – 39352Missing in isoform 2.
VSP_006536
Natural variant51Q → H in a sporadic cancer; somatic mutation.
VAR_044543
Natural variant61S → L in a sporadic cancer; somatic mutation.
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: dbSNP rs1800371. Ref.12
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 variant721R → C in sporadic cancers; somatic mutation.
VAR_045784
Natural variant721R → G in sporadic cancers; somatic mutation.
VAR_045785
Natural variant721R → H in sporadic cancers; somatic mutation.
VAR_045786
Natural variant721R → L in a sporadic cancer; somatic mutation.
VAR_045787
Natural variant721R → P: dbSNP rs1042522. Ref.79
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.
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. Ref.116
VAR_005861
Natural variant1101R → P in sporadic cancers; somatic mutation.
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. Ref.80
VAR_044747
Natural variant1331M → T in LFS; germline mutation and in sporadic cancers; somatic mutation. Ref.80
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.
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.
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.
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.
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.
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.87
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.
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.
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.