| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 4091 |
Name | SMAD6 |
Synonymous | SMAD family member 6;SMAD6;SMAD family member 6 |
Definition | MAD homolog 6|SMAD, mothers against DPP homolog 6|mothers against decapentaplegic homolog 6|mothers against decapentaplegic, drosophila, homolog of, 6 |
Position | 15q22.31 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1390G>A; p.V464I; 15:66781434-66781434 |
skin | malignant_melanoma | Substitution - Missense |
c.1412G>A; p.G471D; 15:66781456-66781456 |
skin | malignant_melanoma | Substitution - Missense |
c.1051G>A; p.D351N; 15:66781095-66781095 |
skin | malignant_melanoma | Substitution - Missense |
c.363C>A; p.C121*; 15:66703621-66703621 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.432C>T; p.P144P; 15:66703690-66703690 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1440C>T; p.F480F; 15:66781484-66781484 |
skin | malignant_melanoma | Substitution - coding silent |
c.863A>G; p.Y288C; 15:66711713-66711713 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.35G>A; p.R12Q; 15:66703293-66703293 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.35G>A; p.R12Q; 15:66703293-66703293 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1227C>T; p.P409P; 15:66781271-66781271 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1159A>T; p.I387F; 15:66781203-66781203 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1306A>T; p.I436F; 15:66781350-66781350 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1439_1441delTCA; p.I481delI; 15:66781483-66781485 |
pleura | pulmonary_blastoma | Deletion - In frame |
c.1411G>A; p.G471S; 15:66781455-66781455 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.1266C>T; p.G422G; 15:66781310-66781310 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1282C>T; p.R428C; 15:66781326-66781326 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1279G>A; p.V427M; 15:66781323-66781323 |
breast | carcinoma | Substitution - Missense |
c.826C>T; p.P276S; 15:66711676-66711676 |
skin | malignant_melanoma | Substitution - Missense |
c.826C>T; p.P276S; 15:66711676-66711676 |
skin | malignant_melanoma | Substitution - Missense |
c.1276G>T; p.V426F; 15:66781320-66781320 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.953-9G>T; p.?; 15:66780988-66780988 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1318G>A; p.D440N; 15:66781362-66781362 |
skin | malignant_melanoma | Substitution - Missense |
c.1137G>A; p.S379S; 15:66781181-66781181 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1192G>A; p.D398N; 15:66781236-66781236 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.516C>G; p.L172L; 15:66703774-66703774 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.939G>C; p.P313P; 15:66716485-66716485 |
liver | carcinoma | Substitution - coding silent |
c.1141C>A; p.R381R; 15:66781185-66781185 |
oesophagus | carcinoma | Substitution - coding silent |
c.1253A>T; p.D418V; 15:66781297-66781297 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1323C>T; p.F441F; 15:66781367-66781367 |
skin | malignant_melanoma | Substitution - coding silent |
c.1327C>T; p.R443C; 15:66781371-66781371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1291delC; p.G433fs*>64; 15:66781335-66781335 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1161C>T; p.I387I; 15:66781205-66781205 |
skin | malignant_melanoma | Substitution - coding silent |
c.833C>T; p.P278L; 15:66711683-66711683 |
skin | malignant_melanoma | Substitution - Missense |
c.1151G>A; p.R384H; 15:66781195-66781195 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1025G>A; p.R342H; 15:66781069-66781069 |
breast | carcinoma | Substitution - Missense |
c.1254C>T; p.D418D; 15:66781298-66781298 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1254C>T; p.D418D; 15:66781298-66781298 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1148C>T; p.T383M; 15:66781192-66781192 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.952+2T>C; p.?; 15:66716500-66716500 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1297G>A; p.G433S; 15:66781341-66781341 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1433G>A; p.R478Q; 15:66781477-66781477 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1167C>T; p.F389F; 15:66781211-66781211 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1219G>A; p.E407K; 15:66781263-66781263 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1351G>A; p.E451K; 15:66781395-66781395 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.866A>T; p.K289M; 15:66711716-66711716 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1393C>T; p.R465C; 15:66781437-66781437 |
liver | carcinoma | Substitution - Missense |
c.1393C>T; p.R465C; 15:66781437-66781437 |
liver | carcinoma | Substitution - Missense |
c.635A>C; p.D212A; 15:66703893-66703893 |
pancreas | carcinoma | Substitution - Missense |
c.882C>A; p.S294S; 15:66716428-66716428 |
pancreas | carcinoid-endocrine_tumour | Substitution - coding silent |
c.1261G>T; p.G421C; 15:66781305-66781305 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1278C>T; p.V426V; 15:66781322-66781322 |
skin | malignant_melanoma | Substitution - coding silent |
c.1430C>A; p.S477Y; 15:66781474-66781474 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1421C>T; p.P474L; 15:66781465-66781465 |
skin | malignant_melanoma | Substitution - Missense |
c.74_79delGCGGCA; p.S27_G28delSG; 15:66703332-66703337 |
oesophagus | carcinoma; adenocarcinoma | Deletion - In frame |
c.1433G>T; p.R478L; 15:66781477-66781477 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |