Entrez Gene

Basic Information
Gene ID	7046
Name	TGFBR1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.858A>T; p.G286G; 9:99142588-99142588	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1237C>T; p.R413*; 9:99146591-99146591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1237C>T; p.R413*; 9:99146591-99146591	pancreas	carcinoma	Substitution - Nonsense
c.1237C>T; p.R413*; 9:99146591-99146591	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.123T>C; p.C41C; 9:99128880-99128880	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1328A>T; p.K443I; 9:99147726-99147726	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.114_116delCCA; p.H39delH; 9:99128871-99128873	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.452G>A; p.R151H; 9:99132617-99132617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.777C>T; p.I259I; 9:99138061-99138061	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.594_605del12; p.A202_I205delARTI; 9:99137878-99137889	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.1093A>G; p.I365V; 9:99144851-99144851	central_nervous_system; brain	glioma	Substitution - Missense
c.1296A>G; p.V432V; 9:99147694-99147694	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.605C>T; p.A202V; 9:99137889-99137889	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.605C>T; p.A202V; 9:99137889-99137889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1273C>T; p.Q425*; 9:99147671-99147671	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1179T>G; p.F393L; 9:99146533-99146533	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1188C>G; p.F396L; 9:99146542-99146542	breast	carcinoma	Substitution - Missense
c.239G>A; p.R80Q; 9:99128996-99128996	breast	carcinoma	Substitution - Missense
c.420A>T; p.S140S; 9:99132585-99132585	skin	malignant_melanoma	Substitution - coding silent
c.1054T>C; p.L352L; 9:99144812-99144812	skin	malignant_melanoma	Substitution - coding silent
c.574G>T; p.G192C; 9:99132739-99132739	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.320A>G; p.N107S; 9:99129077-99129077	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.689C>T; p.A230V; 9:99137973-99137973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>A; p.D333N; 9:99144755-99144755	pancreas	carcinoma	Substitution - Missense
c.199C>T; p.H67Y; 9:99128956-99128956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.850G>T; p.E284*; 9:99142580-99142580	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.850G>T; p.E284*; 9:99142580-99142580	pancreas	carcinoma	Substitution - Nonsense
c.673_674insGGG; p.G226_E227insG; 9:99137957-99137958	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Insertion - In frame
c.1485C>T; p.L495L; 9:99149278-99149278	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.844T>G; p.Y282D; 9:99142574-99142574	skin	malignant_melanoma	Substitution - Missense
c.154delG; p.L53fs*20; 9:99128911-99128911	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.211T>C; p.C71R; 9:99128968-99128968	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1308A>G; p.P436P; 9:99147706-99147706	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.643C>G; p.R215G; 9:99137927-99137927	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.873C>A; p.Y291*; 9:99142603-99142603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.971A>G; p.Q324R; 9:99142701-99142701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.257G>A; p.C86Y; 9:99129014-99129014	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1445G>T; p.R482M; 9:99149238-99149238	prostate	adenoma	Substitution - Missense
c.137T>G; p.F46C; 9:99128894-99128894	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.575-2A>C; p.?; 9:99137857-99137857	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.502C>T; p.R168C; 9:99132667-99132667	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.99G>A; p.A33A; 9:99128856-99128856	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.99G>A; p.A33A; 9:99128856-99128856	pancreas	carcinoma	Substitution - coding silent
c.388A>G; p.I130V; 9:99132553-99132553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.856G>A; p.G286R; 9:99142586-99142586	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.490C>G; p.P164A; 9:99132655-99132655	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.860C>T; p.S287F; 9:99142590-99142590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.860C>T; p.S287F; 9:99142590-99142590	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.958A>G; p.I320V; 9:99142688-99142688	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1340A>G; p.E447G; 9:99147738-99147738	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1331T>G; p.V444G; 9:99147729-99147729	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.733G>A; p.E245K; 9:99138017-99138017	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1107A>G; p.P369P; 9:99144865-99144865	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.733G>A; p.E245K; 9:99138017-99138017	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.348G>A; p.K116K; 9:99132513-99132513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.318C>A; p.C106*; 9:99129075-99129075	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1019_1020insT; p.L340fs*20; 9:99144777-99144778	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.1019_1020insT; p.L340fs*20; 9:99144777-99144778	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.98C>T; p.A33V; 9:99128855-99128855	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.655G>T; p.V219F; 9:99137939-99137939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.528G>A; p.T176T; 9:99132693-99132693	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1460G>A; p.R487Q; 9:99149253-99149253	liver	carcinoma	Substitution - Missense
c.1053C>A; p.D351E; 9:99144811-99144811	pancreas	carcinoma	Substitution - Missense
c.914T>G; p.L305R; 9:99142644-99142644	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.914T>G; p.L305R; 9:99142644-99142644	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.194T>G; p.V65G; 9:99128951-99128951	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1017_1018insT; p.L340fs*20; 9:99144775-99144776	lung	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.537C>T; p.D179D; 9:99132702-99132702	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.650G>C; p.G217A; 9:99137934-99137934	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1247C>T; p.S416F; 9:99146601-99146601	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1247C>T; p.S416F; 9:99146601-99146601	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.893C>T; p.T298I; 9:99142623-99142623	skin; trunk	malignant_melanoma	Substitution - Missense
c.796G>A; p.D266N; 9:99138080-99138080	pancreas	carcinoma	Substitution - Missense
c.1216T>G; p.L406V; 9:99146570-99146570	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.998A>T; p.D333V; 9:99144756-99144756	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>C; p.D81H; 9:99128998-99128998	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.580C>T; p.P194S; 9:99137864-99137864	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1398A>G; p.V466V; 9:99149191-99149191	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.683A>T; p.E228V; 9:99137967-99137967	breast	carcinoma	Substitution - Missense
c.302G>A; p.C101Y; 9:99129059-99129059	pancreas	carcinoma	Substitution - Missense
c.764G>T; p.R255L; 9:99138048-99138048	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.273A>C; p.K91N; 9:99129030-99129030	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1347G>T; p.K449N; 9:99147745-99147745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.848A>G; p.H283R; 9:99142578-99142578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.848A>G; p.H283R; 9:99142578-99142578	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1331_1334delTTGT; p.C446fs*4; 9:99147729-99147732	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - Frameshift
c.469C>T; p.R157*; 9:99132634-99132634	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.469C>T; p.R157*; 9:99132634-99132634	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.887C>T; p.T296I; 9:99142617-99142617	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1279C>T; p.P427S; 9:99147677-99147677	liver	carcinoma	Substitution - Missense
c.1279C>T; p.P427S; 9:99147677-99147677	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.723G>T; p.S241S; 9:99138007-99138007	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1033G>T; p.G345*; 9:99144791-99144791	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1362C>T; p.I454I; 9:99147760-99147760	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1219G>A; p.V407I; 9:99146573-99146573	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1219G>A; p.V407I; 9:99146573-99146573	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.641G>T; p.G214V; 9:99137925-99137925	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.439A>G; p.I147V; 9:99132604-99132604	liver	carcinoma	Substitution - Missense
c.1198G>T; p.D400Y; 9:99146552-99146552	breast	carcinoma	Substitution - Missense
c.1198G>C; p.D400H; 9:99146552-99146552	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.328G>T; p.E110*; 9:99129085-99129085	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.230T>C; p.L77S; 9:99128987-99128987	pancreas	carcinoma	Substitution - Missense
c.644G>C; p.R215P; 9:99137928-99137928	oesophagus	carcinoma	Substitution - Missense
c.247C>T; p.P83S; 9:99129004-99129004	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.247C>T; p.P83S; 9:99129004-99129004	skin; mucosal	malignant_melanoma	Substitution - Missense
c.405C>G; p.C135W; 9:99132570-99132570	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.821C>G; p.T274S; 9:99142551-99142551	pancreas	carcinoma	Substitution - Missense
c.721T>A; p.S241T; 9:99138005-99138005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.134A>G; p.N45S; 9:99128891-99128891	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.134A>G; p.N45S; 9:99128891-99128891	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.134A>G; p.N45S; 9:99128891-99128891	pancreas	carcinoma	Substitution - Missense
c.134A>G; p.N45S; 9:99128891-99128891	urinary_tract; bladder	carcinoma	Substitution - Missense
c.134A>G; p.N45S; 9:99128891-99128891	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1379G>T; p.S460I; 9:99147777-99147777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.891T>C; p.V297V; 9:99142621-99142621	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.764G>A; p.R255H; 9:99138048-99138048	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.748C>G; p.Q250E; 9:99138032-99138032	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.935G>T; p.G312V; 9:99142665-99142665	haematopoietic_and_lymphoid_tissue; tonsil	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1061T>C; p.L354P; 9:99144819-99144819	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>C; p.D333H; 9:99144755-99144755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.601A>G; p.I201V; 9:99137885-99137885	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1007_1014delCAAAGAAT; p.S336fs*21; 9:99144765-99144772	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.723G>A; p.S241S; 9:99138007-99138007	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.723G>A; p.S241S; 9:99138007-99138007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.723G>A; p.S241S; 9:99138007-99138007	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1459C>T; p.R487W; 9:99149252-99149252	pancreas	carcinoma	Substitution - Missense
c.1459C>T; p.R487W; 9:99149252-99149252	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1467_1468insA; p.T491fs*>14; 9:99149260-99149261	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.459C>A; p.V153V; 9:99132624-99132624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3G>A; p.M1I; 9:99105208-99105208	liver	carcinoma	Substitution - Missense
c.3G>A; p.M1I; 9:99105208-99105208	liver	carcinoma	Substitution - Missense
c.722C>T; p.S241L; 9:99138006-99138006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>T; p.S241L; 9:99138006-99138006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>T; p.S241L; 9:99138006-99138006	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>T; p.S241L; 9:99138006-99138006	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>T; p.S241L; 9:99138006-99138006	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.722C>T; p.S241L; 9:99138006-99138006	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.625G>C; p.E209Q; 9:99137909-99137909	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1029G>A; p.K343K; 9:99144787-99144787	skin	malignant_melanoma	Substitution - coding silent
c.935G>A; p.G312D; 9:99142665-99142665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1349T>G; p.L450*; 9:99147747-99147747	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.763C>T; p.R255C; 9:99138047-99138047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

The somatic mutations from COSMIC database