| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1026 |
Name | CDKN1A |
Synonymous | CAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1;cyclin-dependent kinase inhibitor 1A (p21, Cip1);CDKN1A;cyclin-dependent kinase inhibitor 1A (p21, Cip1) |
Definition | CDK-interacting protein 1|CDK-interaction protein 1|DNA synthesis inhibitor|cyclin-dependent kinase inhibitor 1|melanoma differentiation associated protein 6|wild-type p53-activated fragment 1 |
Position | 6p21.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CDKN1A | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CDKN1A_R143W; chr6; 36652305 |
SUB; MISSENSE; C; C/T; SOMATIC | MB; PUTATIVE-HQ; WGS |
CDKN1A_R84Q; chr6; 36652129 |
SUB; MISSENSE; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.412C>G; p.Q138E; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.22_25delGTCC; p.Q10fs*20; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.85C>T; p.Q29*; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.139G>T; p.E47*; |
liver | carcinoma; hepatocellular_carcinoma |
c.186_187insT; p.A64fs*25; |
urinary_tract; bladder | carcinoma |
c.146G>A; p.W49*; |
urinary_tract; bladder | carcinoma |
c.44_60del17; p.S15fs*15; |
urinary_tract; bladder | carcinoma |
c.205_206insG; p.L71fs*18; |
liver | carcinoma; hepatocellular_carcinoma |
c.151T>G; p.F51V; |
liver | carcinoma |
c.56G>A; p.R19H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.184G>T; p.D62Y; |
autonomic_ganglia | neuroblastoma |
c.82G>T; p.E28*; |
liver | carcinoma |
c.427C>T; p.R143W; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.486G>T; p.R162S; |
lung | carcinoma; adenocarcinoma |
c.419G>A; p.R140Q; 6:36760275-36760275 |
ovary | carcinoma; serous_carcinoma |
c.317C>T; p.A106V; |
lung | carcinoma; squamous_cell_carcinoma |
c.256C>T; p.R86W; |
lung | carcinoma; squamous_cell_carcinoma |
c.108G>A; p.A36A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.337C>A; p.L113M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.142C>T; p.R48*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.205C>T; p.R69W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.279G>C; p.R93S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.182G>T; p.G61V; |
urinary_tract; bladder | carcinoma |
c.406G>C; p.D136H; |
urinary_tract; bladder | carcinoma |
c.146G>A; p.W49*; |
urinary_tract; bladder | carcinoma |
c.394G>T; p.G132C; |
urinary_tract; bladder | carcinoma |
c.142C>T; p.R48*; |
urinary_tract; bladder | carcinoma |