Entrez Gene

Basic Information
Gene ID	4088
Name	SMAD3
Synonymous	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

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.484G>A; p.E162K; 15:67165336-67165336	skin; trunk	malignant_melanoma	Substitution - Missense
c.948G>A; p.Q316Q; 15:67184803-67184803	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.765G>A; p.M255I; 15:67181347-67181347	urinary_tract; bladder	carcinoma	Substitution - Missense
c.675C>G; p.T225T; 15:67181257-67181257	skin	malignant_melanoma	Substitution - coding silent
c.715G>T; p.E239*; 15:67181297-67181297	pancreas	carcinoma	Substitution - Nonsense
c.1103G>A; p.R368Q; 15:67187458-67187458	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.425G>A; p.R142H; 15:67165277-67165277	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.449_450insC; p.L153fs*13; 15:67165301-67165302	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1268G>A; p.S423N; 15:67190526-67190526	pancreas	carcinoma	Substitution - Missense
c.1064C>A; p.S355*; 15:67187419-67187419	pancreas	carcinoma	Substitution - Nonsense
c.728G>A; p.R243H; 15:67181310-67181310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.732C>T; p.V244V; 15:67181314-67181314	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.937_938insT; p.V315fs*7; 15:67184792-67184793	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1019T>C; p.L340P; 15:67187374-67187374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.68A>G; p.Q23R; 15:67066222-67066222	breast	carcinoma	Substitution - Missense
c.1118G>A; p.R373H; 15:67187473-67187473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1023G>C; p.K341N; 15:67187378-67187378	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.984G>A; p.P328P; 15:67184839-67184839	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1177C>A; p.P393T; 15:67190435-67190435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1178C>T; p.P393L; 15:67190436-67190436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.784G>A; p.D262N; 15:67181366-67181366	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1265C>T; p.S422F; 15:67190523-67190523	pancreas	NS	Substitution - Missense
c.1178C>T; p.P393L; 15:67190436-67190436	skin	malignant_melanoma	Substitution - Missense
c.1178C>T; p.P393L; 15:67190436-67190436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.859C>T; p.R287W; 15:67181441-67181441	pancreas	carcinoma	Substitution - Missense
c.859C>T; p.R287W; 15:67181441-67181441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.730G>A; p.V244I; 15:67181312-67181312	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.730G>A; p.V244I; 15:67181312-67181312	urinary_tract; bladder	carcinoma	Substitution - Missense
c.220C>G; p.R74G; 15:67164908-67164908	pancreas	carcinoma	Substitution - Missense
c.1259G>A; p.R420H; 15:67190517-67190517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.219C>T; p.G73G; 15:67164907-67164907	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.78G>T; p.Q26H; 15:67066232-67066232	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.676_677insA; p.Y226fs*1; 15:67181258-67181259	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.974G>A; p.G325D; 15:67184829-67184829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.659-1G>A; p.?; 15:67181240-67181240	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.946C>T; p.Q316*; 15:67184801-67184801	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.446A>G; p.E149G; 15:67165298-67165298	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1214A>T; p.Q405L; 15:67190472-67190472	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1060C>T; p.Q354*; 15:67187415-67187415	skin	malignant_melanoma	Substitution - Nonsense
c.147C>T; p.D49D; 15:67066301-67066301	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.797C>T; p.S266L; 15:67181379-67181379	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.797C>T; p.S266L; 15:67181379-67181379	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.991G>A; p.V331I; 15:67184846-67184846	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.991G>A; p.V331I; 15:67184846-67184846	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.991G>A; p.V331I; 15:67184846-67184846	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.269G>A; p.R90H; 15:67164957-67164957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.857C>G; p.T286R; 15:67181439-67181439	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1267A>C; p.S423R; 15:67190525-67190525	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.482C>T; p.P161L; 15:67165334-67165334	skin	malignant_melanoma	Substitution - Missense
c.1022A>C; p.K341T; 15:67187377-67187377	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1274C>G; p.S425C; 15:67190532-67190532	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1274C>G; p.S425C; 15:67190532-67190532	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.803G>A; p.R268H; 15:67181385-67181385	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.803G>A; p.R268H; 15:67181385-67181385	pancreas	carcinoma	Substitution - Missense
c.803G>A; p.R268H; 15:67181385-67181385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.803G>A; p.R268H; 15:67181385-67181385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.243G>T; p.K81N; 15:67164931-67164931	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1274C>A; p.S425Y; 15:67190532-67190532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.371C>T; p.P124L; 15:67165059-67165059	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1181G>T; p.C394F; 15:67190439-67190439	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1129G>A; p.V377I; 15:67187484-67187484	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.21C>T; p.F7F; 15:67066175-67066175	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.757C>T; p.P253S; 15:67181339-67181339	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.345G>A; p.M115I; 15:67165033-67165033	urinary_tract; bladder	carcinoma	Substitution - Missense
c.67C>T; p.Q23*; 15:67066221-67066221	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1045G>T; p.A349S; 15:67187400-67187400	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.880G>A; p.V294M; 15:67184735-67184735	liver	carcinoma	Substitution - Missense
c.272T>C; p.L91P; 15:67164960-67164960	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.710A>G; p.Y237C; 15:67181292-67181292	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1091A>G; p.Y364C; 15:67187446-67187446	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1136G>C; p.G379A; 15:67187491-67187491	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.790T>C; p.S264P; 15:67181372-67181372	genital_tract; extragonadal	germ_cell_tumour; yolk_sac_tumour	Substitution - Missense
c.220C>T; p.R74W; 15:67164908-67164908	pancreas	carcinoma	Substitution - Missense
c.627G>A; p.P209P; 15:67170573-67170573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.748G>T; p.A250S; 15:67181330-67181330	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1187T>C; p.I396T; 15:67190445-67190445	pancreas	carcinoma	Substitution - Missense
c.278G>A; p.R93Q; 15:67164966-67164966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.278G>A; p.R93Q; 15:67164966-67164966	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.278G>A; p.R93Q; 15:67164966-67164966	breast	carcinoma	Substitution - Missense
c.172C>A; p.Q58K; 15:67066326-67066326	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.231G>T; p.V77V; 15:67164919-67164919	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188T>C; p.I396I; 15:67190446-67190446	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1042T>A; p.F348I; 15:67187397-67187397	pancreas	carcinoma	Substitution - Missense
c.25C>T; p.P9S; 15:67066179-67066179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.827A>T; p.N276I; 15:67181409-67181409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.716A>T; p.E239V; 15:67181298-67181298	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.733G>A; p.G245R; 15:67181315-67181315	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1009+1G>A; p.?; 15:67184865-67184865	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.534G>T; p.E178D; 15:67166780-67166780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.748G>A; p.A250T; 15:67181330-67181330	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.534G>T; p.E178D; 15:67166780-67166780	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.501C>A; p.P167P; 15:67165353-67165353	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1236C>T; p.T412T; 15:67190494-67190494	skin	malignant_melanoma	Substitution - coding silent
c.1093C>A; p.Q365K; 15:67187448-67187448	urinary_tract; bladder	carcinoma	Substitution - Missense
c.968G>A; p.R323H; 15:67184823-67184823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.239G>A; p.R80Q; 15:67164927-67164927	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.888C>G; p.L296L; 15:67184743-67184743	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1267A>G; p.S423G; 15:67190525-67190525	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.604G>A; p.A202T; 15:67166850-67166850	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.335C>T; p.A112V; 15:67165023-67165023	skin	malignant_melanoma	Substitution - Missense
c.277C>T; p.R93*; 15:67164965-67164965	ovary	other; neoplasm	Substitution - Nonsense
c.866A>C; p.H289P; 15:67181448-67181448	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.544C>T; p.P182S; 15:67166790-67166790	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.727C>T; p.R243C; 15:67181309-67181309	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.985G>T; p.A329S; 15:67184840-67184840	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1231C>T; p.L411F; 15:67190489-67190489	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1231C>T; p.L411F; 15:67190489-67190489	pancreas	carcinoma	Substitution - Missense
c.553C>T; p.L185L; 15:67166799-67166799	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.304G>A; p.E102K; 15:67164992-67164992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.230T>C; p.V77A; 15:67164918-67164918	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1253G>T; p.S418I; 15:67190511-67190511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>T; p.R373C; 15:67187472-67187472	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1253G>A; p.S418N; 15:67190511-67190511	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1145C>T; p.A382V; 15:67187500-67187500	breast	carcinoma	Substitution - Missense
c.913G>A; p.A305T; 15:67184768-67184768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.815G>A; p.G272E; 15:67181397-67181397	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.451C>T; p.P151S; 15:67165303-67165303	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.715G>A; p.E239K; 15:67181297-67181297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1250C>T; p.P417L; 15:67190508-67190508	skin	malignant_melanoma	Substitution - Missense
c.261C>A; p.I87I; 15:67164949-67164949	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.715G>A; p.E239K; 15:67181297-67181297	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1044C>T; p.F348F; 15:67187399-67187399	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.445G>A; p.E149K; 15:67165297-67165297	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445G>A; p.E149K; 15:67165297-67165297	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.445G>A; p.E149K; 15:67165297-67165297	central_nervous_system; brain	glioma	Substitution - Missense
c.445G>A; p.E149K; 15:67165297-67165297	urinary_tract; bladder	carcinoma	Substitution - Missense
c.883C>T; p.R295W; 15:67184738-67184738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.207-10G>A; p.?; 15:67164885-67164885	pancreas	carcinoma	Unknown
c.207-10G>A; p.?; 15:67164885-67164885	pancreas	carcinoma	Unknown
c.207-10G>A; p.?; 15:67164885-67164885	pancreas	carcinoma	Unknown
c.802C>T; p.R268C; 15:67181384-67181384	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.802C>T; p.R268C; 15:67181384-67181384	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.802C>T; p.R268C; 15:67181384-67181384	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.717G>A; p.E239E; 15:67181299-67181299	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.802C>T; p.R268C; 15:67181384-67181384	pancreas	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]