| Gene ID | 836 |
| Symbol | CASP3 |
| Synonymous | CPP32|CPP32B|SCA-1 |
| Full name | caspase 3, apoptosis-related cysteine peptidase |
| Gene description | CASP-3|CPP-32|PARP cleavage protease|SREBP cleavage activity 1|apopain|caspase 3, apoptosis-related cysteine protease|caspase-3|cysteine protease CPP32|procaspase3|protein Yama |
| Cytoband | 4q34 |
| Gene type | protein-coding |
| Synonymous | MIM:600636; HGNC:HGNC:1504; Ensembl:ENSG00000164305; HPRD:02799; Vega:OTTHUMG00000133681 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.428T>C; p.F143S; 4:184631820-184631820 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.721C>T; p.R241*; 4:184629385-184629385 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.308-1G>T; p.?; 4:184631941-184631941 |
kidney | other; neoplasm | Unknown |
c.385G>T; p.G129*; 4:184631863-184631863 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.197G>T; p.G66V; 4:184632378-184632378 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.702C>A; p.H234Q; 4:184629404-184629404 |
liver | carcinoma | Substitution - Missense |
c.295T>A; p.L99M; 4:184632280-184632280 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.347G>A; p.C116Y; 4:184631901-184631901 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.340T>G; p.F114V; 4:184631908-184631908 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.415A>G; p.I139V; 4:184631833-184631833 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.825T>A; p.F275L; 4:184629281-184629281 |
prostate | carcinoma | Substitution - Missense |
c.52C>T; p.P18S; 4:184638402-184638402 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.574G>A; p.D192N; 4:184631067-184631067 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.429C>T; p.F143F; 4:184631819-184631819 |
skin | malignant_melanoma | Substitution - coding silent |
c.429C>T; p.F143F; 4:184631819-184631819 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.801C>A; p.S267S; 4:184629305-184629305 |
skin | malignant_melanoma | Substitution - coding silent |
c.657T>C; p.L219L; 4:184629449-184629449 |
skin | malignant_melanoma | Substitution - coding silent |
c.321T>C; p.D107D; 4:184631927-184631927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.301C>T; p.R101C; 4:184632274-184632274 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.549G>A; p.A183A; 4:184631092-184631092 |
skin | malignant_melanoma | Substitution - coding silent |
c.482A>T; p.Q161L; 4:184631766-184631766 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.78A>G; p.S26S; 4:184635394-184635394 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.619C>T; p.R207*; 4:184629487-184629487 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.483+1G>A; p.?; 4:184631764-184631764 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.439C>T; p.R147C; 4:184631809-184631809 |
skin | malignant_melanoma | Substitution - Missense |
c.573C>A; p.A191A; 4:184631068-184631068 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.645C>T; p.F215F; 4:184629461-184629461 |
thyroid | carcinoma | Substitution - coding silent |
c.159G>T; p.K53N; 4:184635313-184635313 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>C; p.D180H; 4:184631103-184631103 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.191G>A; p.R64Q; 4:184632384-184632384 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.831C>G; p.H277Q; 4:184629275-184629275 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.72C>T; p.S24S; 4:184635400-184635400 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.352C>A; p.L118I; 4:184631896-184631896 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.814G>T; p.E272*; 4:184629292-184629292 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.814G>T; p.E272*; 4:184629292-184629292 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.814G>T; p.E272*; 4:184629292-184629292 |
breast | carcinoma | Substitution - Nonsense |
c.343G>T; p.V115F; 4:184631905-184631905 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.481C>T; p.Q161*; 4:184631767-184631767 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.415delA; p.I139fs*1; 4:184631833-184631833 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.207C>T; p.V69V; 4:184632368-184632368 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.207C>T; p.V69V; 4:184632368-184632368 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.491G>A; p.R164H; 4:184631150-184631150 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>A; p.M1I; 4:184638451-184638451 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.268G>T; p.D90Y; 4:184632307-184632307 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.188C>T; p.S63F; 4:184632387-184632387 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.542A>C; p.D181A; 4:184631099-184631099 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.712C>T; p.R238W; 4:184629394-184629394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>A; p.A244T; 4:184629376-184629376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |