| Gene ID | 11035 |
| Symbol | RIPK3 |
| Synonymous | RIP3 |
| Full name | receptor-interacting serine-threonine kinase 3 |
| Gene description | RIP-3|RIP-like protein kinase 3|receptor interacting protein 3|receptor-interacting protein 3|receptor-interacting serine/threonine-protein kinase 3 |
| Cytoband | 14q11.2 |
| Gene type | protein-coding |
| Synonymous | MIM:605817; HGNC:HGNC:10021; Ensembl:ENSG00000129465; HPRD:09315; Vega:OTTHUMG00000029349 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1475delC; p.P492fs*3; 14:24336257-24336257 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1126G>A; p.E376K; 14:24337235-24337235 |
skin | malignant_melanoma | Substitution - Missense |
c.1231C>T; p.P411S; 14:24337130-24337130 |
skin | malignant_melanoma | Substitution - Missense |
c.1372G>A; p.V458M; 14:24336360-24336360 |
skin | malignant_melanoma | Substitution - Missense |
c.244G>A; p.V82M; 14:24339242-24339242 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1442C>T; p.P481L; 14:24336290-24336290 |
skin | malignant_melanoma | Substitution - Missense |
c.621C>T; p.F207F; 14:24338292-24338292 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.136G>A; p.D46N; 14:24339482-24339482 |
breast | carcinoma | Substitution - Missense |
c.1372delG; p.V458fs*9; 14:24336360-24336360 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1347C>T; p.L449L; 14:24336385-24336385 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1173G>A; p.S391S; 14:24337188-24337188 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1445C>T; p.S482L; 14:24336287-24336287 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.246G>A; p.V82V; 14:24339240-24339240 |
skin | malignant_melanoma | Substitution - coding silent |
c.167C>T; p.A56V; 14:24339319-24339319 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.246G>A; p.V82V; 14:24339240-24339240 |
skin | malignant_melanoma | Substitution - coding silent |
c.271G>T; p.A91S; 14:24339215-24339215 |
prostate | carcinoma | Substitution - Missense |
c.111G>A; p.R37R; 14:24339507-24339507 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.111G>A; p.R37R; 14:24339507-24339507 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.298G>A; p.G100S; 14:24339188-24339188 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1224G>A; p.M408I; 14:24337137-24337137 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.372G>A; p.V124V; 14:24339114-24339114 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.398A>T; p.D133V; 14:24339088-24339088 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1493A>G; p.E498G; 14:24336239-24336239 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.215T>C; p.V72A; 14:24339271-24339271 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.70C>T; p.Q24*; 14:24339548-24339548 |
breast | carcinoma | Substitution - Nonsense |
c.1477C>T; p.P493S; 14:24336255-24336255 |
skin | malignant_melanoma | Substitution - Missense |
c.184A>G; p.K62E; 14:24339302-24339302 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.30T>A; p.G10G; 14:24339588-24339588 |
breast | carcinoma | Substitution - coding silent |
c.38C>T; p.A13V; 14:24339580-24339580 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.240G>A; p.E80E; 14:24339246-24339246 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1150A>G; p.T384A; 14:24337211-24337211 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1508C>T; p.P503L; 14:24336224-24336224 |
skin | malignant_melanoma | Substitution - Missense |
c.1150A>G; p.T384A; 14:24337211-24337211 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.448C>T; p.L150L; 14:24339038-24339038 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.1092delA; p.K364fs*69; 14:24337269-24337269 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.226G>C; p.E76Q; 14:24339260-24339260 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1301G>C; p.W434S; 14:24336920-24336920 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>A; p.S108Y; 14:24339163-24339163 |
liver | carcinoma | Substitution - Missense |
c.466G>A; p.V156I; 14:24339020-24339020 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>A; p.S108Y; 14:24339163-24339163 |
liver | carcinoma | Substitution - Missense |
c.1510G>A; p.E504K; 14:24336222-24336222 |
skin | malignant_melanoma | Substitution - Missense |
c.1301G>C; p.W434S; 14:24336920-24336920 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1255C>T; p.P419S; 14:24337106-24337106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1124A>G; p.Q375R; 14:24337237-24337237 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1322C>T; p.P441L; 14:24336899-24336899 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.1276G>A; p.G426R; 14:24336945-24336945 |
skin | malignant_melanoma | Substitution - Missense |
c.421C>G; p.R141G; 14:24339065-24339065 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.633G>A; p.M211I; 14:24338280-24338280 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.709C>A; p.Q237K; 14:24337996-24337996 |
breast | carcinoma | Substitution - Missense |
c.51C>T; p.S17S; 14:24339567-24339567 |
skin | malignant_melanoma | Substitution - coding silent |
c.1317G>A; p.P439P; 14:24336904-24336904 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.967G>A; p.G323R; 14:24337394-24337394 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1254T>A; p.S418R; 14:24337107-24337107 |
breast | carcinoma | Substitution - Missense |
c.334C>T; p.R112W; 14:24339152-24339152 |
skin | malignant_melanoma | Substitution - Missense |
c.901-2A>T; p.?; 14:24337462-24337462 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.309G>A; p.S103S; 14:24339177-24339177 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1556A>G; p.*519*; 14:24336176-24336176 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1556A>G; p.*519*; 14:24336176-24336176 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1492G>A; p.E498K; 14:24336240-24336240 |
NS | malignant_melanoma | Substitution - Missense |
c.110G>T; p.R37L; 14:24339508-24339508 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.324C>T; p.S108S; 14:24339162-24339162 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1446G>A; p.S482S; 14:24336286-24336286 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1132C>T; p.Q378*; 14:24337229-24337229 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.581T>A; p.V194E; 14:24338458-24338458 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1339C>T; p.R447*; 14:24336393-24336393 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1339C>T; p.R447*; 14:24336393-24336393 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.297C>T; p.N99N; 14:24339189-24339189 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.502G>A; p.G168R; 14:24338537-24338537 |
skin | malignant_melanoma | Substitution - Missense |
c.1475C>A; p.P492Q; 14:24336257-24336257 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.565G>T; p.E189*; 14:24338474-24338474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1230C>T; p.S410S; 14:24337131-24337131 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.304T>C; p.L102L; 14:24339182-24339182 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.304T>C; p.L102L; 14:24339182-24339182 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1473C>A; p.P491P; 14:24336259-24336259 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.213C>T; p.F71F; 14:24339273-24339273 |
skin | malignant_melanoma | Substitution - coding silent |
c.1340G>A; p.R447Q; 14:24336392-24336392 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.691G>A; p.E231K; 14:24338014-24338014 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.375G>C; p.V125V; 14:24339111-24339111 |
pancreas | carcinoma | Substitution - coding silent |
c.878A>T; p.N293I; 14:24337717-24337717 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1172C>T; p.S391L; 14:24337189-24337189 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1172C>T; p.S391L; 14:24337189-24337189 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.181G>A; p.V61I; 14:24339305-24339305 |
skin | malignant_melanoma | Substitution - Missense |
c.308C>T; p.S103L; 14:24339178-24339178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.421C>T; p.R141W; 14:24339065-24339065 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.332C>T; p.P111L; 14:24339154-24339154 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.221G>A; p.R74H; 14:24339265-24339265 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1348G>A; p.V450I; 14:24336384-24336384 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1348G>A; p.V450I; 14:24336384-24336384 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.129G>A; p.W43*; 14:24339489-24339489 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.158A>G; p.N53S; 14:24339460-24339460 |
skin | malignant_melanoma | Substitution - Missense |
c.733C>T; p.L245L; 14:24337972-24337972 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.248A>T; p.N83I; 14:24339238-24339238 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |