| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 23581 |
Name | CASP14 |
Synonymous | -;caspase 14, apoptosis-related cysteine peptidase;CASP14;caspase 14, apoptosis-related cysteine peptidase |
Definition | CASP-14|apoptosis-related cysteine protease|caspase 14, apoptosis-related cysteine protease|caspase-14 |
Position | 19p13.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CASP14 | ||
PCGP somatic mutation [Top] | ||
There is no record for CASP14 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.416C>T; p.P139L; |
skin; arm | malignant_melanoma |
c.707G>A; p.R236Q; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.457A>G; p.K153E; |
liver | carcinoma; hepatocellular_carcinoma |
c.573G>T; p.L191L; |
skin; hand | malignant_melanoma |
c.53G>A; p.R18H; |
pancreas | carcinoma; acinar_carcinoma |
c.224G>A; p.R75Q; |
haematopoietic_and_lymphoid_tissue; breast | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.489A>T; p.T163T; |
lung | carcinoma; small_cell_carcinoma |
c.118G>A; p.E40K; |
skin; arm | malignant_melanoma |
c.520+5G>T; p.?; 19:15027090-15027090 |
lung | carcinoma |
c.2T>A; p.M1K; |
lung | carcinoma; adenocarcinoma |
c.109G>A; p.D37N; |
lung | carcinoma; adenocarcinoma |
c.426A>G; p.T142T; |
NS | NS |
c.140G>T; p.R47I; |
prostate | carcinoma |
c.584T>A; p.F195Y; 19:15027304-15027304 |
ovary | carcinoma; serous_carcinoma |
c.53G>C; p.R18P; |
lung | carcinoma; squamous_cell_carcinoma |
c.670G>C; p.A224P; |
lung | carcinoma; adenocarcinoma |
c.153C>A; p.T51T; |
lung | carcinoma; squamous_cell_carcinoma |
c.531C>A; p.A177A; |
lung | carcinoma; squamous_cell_carcinoma |
c.131G>A; p.R44Q; |
lung | carcinoma; adenocarcinoma |
c.521-1G>T; p.?; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.327C>T; p.F109F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.250G>A; p.V84M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.583T>C; p.F195L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.535C>T; p.R179*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.598G>T; p.G200*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.706C>T; p.R236W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.13C>T; p.R5W; |
large_intestine; rectum | NS |
c.13C>T; p.R5W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.53G>A; p.R18H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.130C>T; p.R44W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.345G>T; p.K115N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.502G>A; p.V168I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.400G>T; p.G134*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.157A>C; p.K53Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.145G>A; p.E49K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.327C>T; p.F109F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.85C>A; p.R29R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.585C>A; p.F195L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.336G>T; p.L112L; |
urinary_tract; bladder | carcinoma |
c.541G>A; p.D181N; |
skin | malignant_melanoma |
c.322C>T; p.L108F; |
skin | malignant_melanoma |
c.88G>A; p.E30K; |
skin | malignant_melanoma |
c.509C>T; p.S170F; |
skin; mucosal | malignant_melanoma |
c.130C>T; p.R44W; |
skin; mucosal | malignant_melanoma |