Entrez Gene

Basic Information
Gene ID	4087
Name	SMAD2
Synonymous	SMAD family member 2;SMAD2;SMAD family member 2
Definition	MAD homolog 2\|SMAD, mothers against DPP homolog 2\|Sma- and Mad-related protein 2\|mother against DPP homolog 2\|mothers against decapentaplegic homolog 2
Position	18q21.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1393A>C; p.S465R; 18:47841838-47841838	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.354C>T; p.S118S; 18:47869409-47869409	skin	malignant_melanoma	Substitution - coding silent
c.1283G>A; p.R428K; 18:47841948-47841948	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.734C>G; p.S245C; 18:47851324-47851324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.491_492insA; p.Y165fs*7; 18:47869271-47869272	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.659_660insC; p.P221fs*8; 18:47865129-47865130	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.477A>G; p.E159E; 18:47869286-47869286	skin	malignant_melanoma	Substitution - coding silent
c.901G>A; p.G301S; 18:47848571-47848571	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.667C>T; p.P223S; 18:47865122-47865122	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.827C>T; p.S276L; 18:47848645-47848645	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.827C>T; p.S276L; 18:47848645-47848645	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.827C>T; p.S276L; 18:47848645-47848645	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.827C>T; p.S276L; 18:47848645-47848645	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4T>C; p.S2P; 18:47896753-47896753	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.118T>G; p.W40G; 18:47896639-47896639	breast	carcinoma	Substitution - Missense
c.245C>G; p.S82C; 18:47870556-47870556	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.733T>C; p.S245P; 18:47851325-47851325	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1297A>G; p.S433G; 18:47841934-47841934	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1004G>A; p.G335E; 18:47845794-47845794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.660G>A; p.T220T; 18:47865129-47865129	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.659C>T; p.T220M; 18:47865130-47865130	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.659C>T; p.T220M; 18:47865130-47865130	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.659C>T; p.T220M; 18:47865130-47865130	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.659C>T; p.T220M; 18:47865130-47865130	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.902G>T; p.G301V; 18:47848570-47848570	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.659C>T; p.T220M; 18:47865130-47865130	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.917C>G; p.S306*; 18:47848555-47848555	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.899A>T; p.D300V; 18:47848573-47848573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1266G>A; p.W422*; 18:47845354-47845354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1348G>A; p.D450N; 18:47841883-47841883	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1091A>C; p.Q364P; 18:47845707-47845707	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1385_1391delGTTGCTC; p.R462fs*>4; 18:47841840-47841846	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.214A>G; p.T72A; 18:47896543-47896543	central_nervous_system; brain	glioma	Substitution - Missense
c.919A>C; p.N307H; 18:47848553-47848553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.880C>G; p.Q294E; 18:47848592-47848592	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1394G>T; p.S465I; 18:47841837-47841837	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.446G>A; p.C149Y; 18:47869317-47869317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.365G>T; p.G122V; 18:47869398-47869398	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.424G>T; p.E142*; 18:47869339-47869339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.424G>T; p.E142*; 18:47869339-47869339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.224T>C; p.V75A; 18:47896533-47896533	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.890T>A; p.L297H; 18:47848582-47848582	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.890T>A; p.L297H; 18:47848582-47848582	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.890T>A; p.L297H; 18:47848582-47848582	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.890T>A; p.L297H; 18:47848582-47848582	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.448G>A; p.E150K; 18:47869315-47869315	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.972G>A; p.T324T; 18:47848500-47848500	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.731-4T>G; p.?; 18:47851331-47851331	pancreas	carcinoid-endocrine_tumour	Unknown
c.1069G>A; p.V357M; 18:47845729-47845729	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1391C>A; p.S464*; 18:47841840-47841840	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391C>A; p.S464*; 18:47841840-47841840	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1391C>A; p.S464*; 18:47841840-47841840	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391C>A; p.S464*; 18:47841840-47841840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1281-8T>G; p.?; 18:47841958-47841958	liver	carcinoma	Unknown
c.891_894delCACT; p.T298fs*1; 18:47848578-47848581	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.941G>C; p.G314A; 18:47848531-47848531	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.875C>T; p.A292V; 18:47848597-47848597	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.898G>A; p.D300N; 18:47848574-47848574	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1213G>A; p.V405I; 18:47845407-47845407	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.466A>G; p.K156E; 18:47869297-47869297	skin	malignant_melanoma	Substitution - Missense
c.688G>T; p.G230*; 18:47865101-47865101	liver	carcinoma	Substitution - Nonsense
c.688G>T; p.G230*; 18:47865101-47865101	liver	carcinoma	Substitution - Nonsense
c.914C>A; p.P305Q; 18:47848558-47848558	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1015T>C; p.Y339H; 18:47845783-47845783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.558C>T; p.I186I; 18:47868420-47868420	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.544C>A; p.R182R; 18:47868434-47868434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1201G>T; p.G401C; 18:47845419-47845419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.161A>C; p.K54T; 18:47896596-47896596	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1076G>A; p.S359N; 18:47845722-47845722	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.583G>C; p.D195H; 18:47868395-47868395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.477A>C; p.E159D; 18:47869286-47869286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.639G>C; p.Q213H; 18:47868339-47868339	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.651T>C; p.I217I; 18:47868327-47868327	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1391C>T; p.S464L; 18:47841840-47841840	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1315G>T; p.E439*; 18:47841916-47841916	prostate	carcinoma	Substitution - Nonsense
c.102T>C; p.N34N; 18:47896655-47896655	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.908C>G; p.T303R; 18:47848564-47848564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1219C>G; p.Q407E; 18:47845401-47845401	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.962G>A; p.R321Q; 18:47848510-47848510	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.962G>A; p.R321Q; 18:47848510-47848510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.962G>A; p.R321Q; 18:47848510-47848510	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.962G>A; p.R321Q; 18:47848510-47848510	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.962G>A; p.R321Q; 18:47848510-47848510	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.962G>A; p.R321Q; 18:47848510-47848510	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.968C>T; p.A323V; 18:47848504-47848504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1324C>G; p.L442V; 18:47841907-47841907	breast	carcinoma	Substitution - Missense
c.1007T>G; p.V336G; 18:47845791-47845791	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1388G>A; p.C463Y; 18:47841843-47841843	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.529C>T; p.P177S; 18:47868449-47868449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.911A>G; p.D304G; 18:47848561-47848561	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.27G>A; p.P9P; 18:47896730-47896730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.933C>G; p.F311L; 18:47848539-47848539	breast	carcinoma	Substitution - Missense
c.1281-1G>A; p.?; 18:47841951-47841951	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1400C>T; p.S467L; 18:47841831-47841831	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1265G>A; p.W422*; 18:47845355-47845355	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	breast	carcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	breast	carcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.159G>T; p.K53N; 18:47896598-47896598	breast	carcinoma	Substitution - Missense
c.1391C>G; p.S464*; 18:47841840-47841840	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1391C>G; p.S464*; 18:47841840-47841840	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1101C>T; p.G367G; 18:47845697-47845697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.682G>T; p.E228*; 18:47865107-47865107	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1001G>A; p.R334K; 18:47845797-47845797	breast	carcinoma	Substitution - Missense
c.1279C>T; p.R427*; 18:47845341-47845341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.97C>T; p.Q33*; 18:47896660-47896660	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1124A>G; p.K375R; 18:47845674-47845674	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1003G>A; p.G335R; 18:47845795-47845795	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.958A>C; p.N320H; 18:47848514-47848514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.397C>T; p.R133C; 18:47869366-47869366	pancreas	carcinoma	Substitution - Missense
c.397C>T; p.R133C; 18:47869366-47869366	pancreas	carcinoma	Substitution - Missense
c.597C>A; p.S199S; 18:47868381-47868381	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.914C>T; p.P305L; 18:47848558-47848558	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1067T>G; p.F356C; 18:47845731-47845731	breast	carcinoma	Substitution - Missense
c.908C>T; p.T303I; 18:47848564-47848564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.749C>T; p.S250F; 18:47851309-47851309	skin	malignant_melanoma	Substitution - Missense
c.359G>A; p.R120Q; 18:47869404-47869404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.633G>A; p.E211E; 18:47868345-47868345	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.359G>A; p.R120Q; 18:47869404-47869404	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1213G>T; p.V405F; 18:47845407-47845407	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.407A>T; p.D136V; 18:47869356-47869356	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.264T>G; p.S88R; 18:47870537-47870537	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1135+2T>C; p.?; 18:47845661-47845661	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.495C>G; p.Y165*; 18:47869268-47869268	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.536T>G; p.L179*; 18:47868442-47868442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.596C>G; p.S199C; 18:47868382-47868382	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1389C>A; p.C463*; 18:47841842-47841842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1261G>T; p.G421W; 18:47845359-47845359	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1244G>T; p.R415I; 18:47845376-47845376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1190C>T; p.S397F; 18:47845430-47845430	skin	malignant_melanoma	Substitution - Missense
c.1336C>G; p.L446V; 18:47841895-47841895	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1228A>C; p.R410R; 18:47845392-47845392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1217A>G; p.Y406C; 18:47845403-47845403	prostate	carcinoma	Substitution - Missense
c.550A>G; p.T184A; 18:47868428-47868428	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.961C>T; p.R321*; 18:47848511-47848511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.170G>A; p.R57Q; 18:47896587-47896587	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.961C>T; p.R321*; 18:47848511-47848511	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.969C>T; p.A323A; 18:47848503-47848503	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.961C>T; p.R321*; 18:47848511-47848511	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.961C>T; p.R321*; 18:47848511-47848511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.544C>T; p.R182*; 18:47868434-47868434	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.544C>T; p.R182*; 18:47868434-47868434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.544C>T; p.R182*; 18:47868434-47868434	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.544C>T; p.R182*; 18:47868434-47868434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.544C>T; p.R182*; 18:47868434-47868434	pancreas	carcinoma	Substitution - Nonsense
c.592C>T; p.H198Y; 18:47868386-47868386	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]