| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4088 |
Name | SMAD3 |
Synonymous | HSPC193|HsT17436|JV15-2|LDS1C|MADH3;SMAD family member 3;SMAD3;SMAD family member 3 |
Definition | MAD homolog 3|MAD, mothers against decapentaplegic homolog 3|SMA- and MAD-related protein 3|SMAD, mothers against DPP homolog 3|hMAD-3|hSMAD3|mad homolog JV15-2|mad protein homolog|mad3|mothers against DPP homolog 3|mothers against decapentaplegic homolog |
Position | 15q22.33 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SMAD3 | ||
PCGP somatic mutation [Top] | ||
There is no record for SMAD3 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.425G>A; p.R142H; |
liver | carcinoma; hepatocellular_carcinoma |
c.1274C>G; p.S425C; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.269G>A; p.R90H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1103G>A; p.R368Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.827A>T; p.N276I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1118G>A; p.R373H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.859C>T; p.R287W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.676_677insA; p.Y226fs*1; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1129G>A; p.V377I; |
oesophagus | carcinoma; adenocarcinoma |
c.446A>G; p.E149G; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1009+1G>A; p.?; 15:65264257-65264257 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.716A>T; p.E239V; |
lung | carcinoma; adenocarcinoma |
c.866A>C; p.H289P; |
lung | carcinoma; adenocarcinoma |
c.1231C>T; p.L411F; |
lung | carcinoma; adenocarcinoma |
c.991G>A; p.V331I; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.484G>A; p.E162K; |
skin; trunk | malignant_melanoma |
c.1178C>T; p.P393L; 15:65269828-65269828 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1045G>T; p.A349S; |
autonomic_ganglia | neuroblastoma |
c.1267A>G; p.S423G; |
ovary | carcinoma; clear_cell_carcinoma |
c.1265C>T; p.S422F; |
pancreas | NS |
c.880G>A; p.V294M; |
liver | carcinoma |
c.757C>T; p.P253S; |
lung | carcinoma; adenocarcinoma |
c.1023G>C; p.K341N; |
lung | carcinoma; squamous_cell_carcinoma |
c.231G>T; p.V77V; |
lung | carcinoma; adenocarcinoma |
c.21C>T; p.F7F; |
lung | carcinoma; squamous_cell_carcinoma |
c.803G>A; p.R268H; |
lung | carcinoma; adenocarcinoma |
c.717G>A; p.E239E; |
lung | carcinoma; adenocarcinoma |
c.261C>A; p.I87I; |
lung | carcinoma; squamous_cell_carcinoma |
c.748G>T; p.A250S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.727C>T; p.R243C; |
lung | carcinoma; adenocarcinoma |
c.1267A>C; p.S423R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1145C>T; p.A382V; |
breast | carcinoma |
c.948G>A; p.Q316Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.659-1G>A; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.534G>T; p.E178D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1177C>A; p.P393T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.239G>A; p.R80Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.803G>A; p.R268H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.67C>T; p.Q23*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.304G>A; p.E102K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.974G>A; p.G325D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1253G>T; p.S418I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.710A>G; p.Y237C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.534G>T; p.E178D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1136G>C; p.G379A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.968G>A; p.R323H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.78G>T; p.Q26H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.883C>T; p.R295W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1022A>C; p.K341T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1044C>T; p.F348F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.627G>A; p.P209P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1274C>A; p.S425Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.802C>T; p.R268C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.802C>T; p.R268C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.25C>T; p.P9S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1259G>A; p.R420H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.449_450insC; p.L153fs*13; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1019T>C; p.L340P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1214A>T; p.Q405L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.991G>A; p.V331I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.147C>T; p.D49D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.765G>A; p.M255I; |
urinary_tract; bladder | carcinoma |
c.345G>A; p.M115I; |
urinary_tract; bladder | carcinoma |
c.1181G>T; p.C394F; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1178C>T; p.P393L; 15:65269828-65269828 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.857C>G; p.T286R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.278G>A; p.R93Q; |
breast | carcinoma |
c.1093C>A; p.Q365K; |
urinary_tract; bladder | carcinoma |
c.985G>T; p.A329S; |
prostate | carcinoma; adenocarcinoma |
c.68A>G; p.Q23R; |
breast | carcinoma |
c.445G>A; p.E149K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.888C>G; p.L296L; |
urinary_tract; bladder | carcinoma |
c.1117C>T; p.R373C; |
skin; upper_leg | malignant_melanoma |