| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 859 |
Name | CAV3 |
Synonymous | LGMD1C|LQT9|VIP-21|VIP21;caveolin 3;CAV3;caveolin 3 |
Definition | M-caveolin|caveolin-3 |
Position | 3p25 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CAV3 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CAV3_E2_UTR_3; chr3; 8788405 |
SUB; UTR_3; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.377G>A; p.R126H; |
lung | carcinoma; adenocarcinoma |
c.369C>G; p.L123L; |
breast | carcinoma; ER-PR-positive_carcinoma |
c.443G>A; p.R148Q; |
oesophagus | carcinoma; adenocarcinoma |
c.124G>A; p.E42K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.168C>A; p.G56G; |
lung | carcinoma; adenocarcinoma |
c.250C>G; p.L84V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.206A>T; p.K69M; |
lung | carcinoma; adenocarcinoma |
c.24T>A; p.D8E; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.400G>A; p.A134T; |
lung | carcinoma; squamous_cell_carcinoma |
c.377G>A; p.R126H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.136G>A; p.A46T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.400G>A; p.A134T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.234G>A; p.T78T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.223C>A; p.L75M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.39C>T; p.I13I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.300C>A; p.I100I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.441G>A; p.L147L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.132G>A; p.V44V; |
breast | carcinoma |
c.123T>C; p.F41F; |
prostate | carcinoma; adenocarcinoma |
c.305C>T; p.A102V; |
skin | malignant_melanoma |