Entrez Gene

Basic Information
Gene ID	90
Name	ACVR1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.49C>T; p.P17S; 2:157799445-157799445	skin	malignant_melanoma	Substitution - Missense
c.740G>A; p.R247K; 2:157770418-157770418	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1204G>A; p.V402I; 2:157760940-157760940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.126C>T; p.C42C; 2:157780542-157780542	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1485G>C; p.L495F; 2:157737576-157737576	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1341A>G; p.V447V; 2:157738494-157738494	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.345T>C; p.P115P; 2:157778329-157778329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.54C>A; p.S18S; 2:157799440-157799440	breast	carcinoma	Substitution - coding silent
c.148G>T; p.G50C; 2:157780520-157780520	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1346G>T; p.C449F; 2:157738489-157738489	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.910A>C; p.S304R; 2:157766077-157766077	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.206G>T; p.G69V; 2:157780462-157780462	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1395+1G>A; p.?; 2:157738439-157738439	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1067G>A; p.G356D; 2:157761077-157761077	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1067G>A; p.G356D; 2:157761077-157761077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.502G>A; p.E168K; 2:157778172-157778172	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>T; p.S190L; 2:157774162-157774162	skin	malignant_melanoma	Substitution - Missense
c.895A>G; p.T299A; 2:157766092-157766092	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1123C>T; p.R375C; 2:157761021-157761021	ovary	other; neoplasm	Substitution - Missense
c.1123C>T; p.R375C; 2:157761021-157761021	skin	malignant_melanoma	Substitution - Missense
c.1123C>T; p.R375C; 2:157761021-157761021	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1123C>T; p.R375C; 2:157761021-157761021	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.422T>A; p.L141Q; 2:157778252-157778252	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.149G>T; p.G50V; 2:157780519-157780519	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.846T>C; p.I282I; 2:157766141-157766141	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.439C>T; p.R147*; 2:157778235-157778235	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.124T>G; p.C42G; 2:157780544-157780544	pancreas	carcinoma	Substitution - Missense
c.859G>A; p.E287K; 2:157766128-157766128	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>C; p.A181P; 2:157778133-157778133	ovary	other; neoplasm	Substitution - Missense
c.920G>A; p.R307Q; 2:157766067-157766067	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857A>G; p.H286R; 2:157766130-157766130	pancreas	carcinoma	Substitution - Missense
c.772A>G; p.R258G; 2:157770386-157770386	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.3G>T; p.M1I; 2:157799491-157799491	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1188C>A; p.F396L; 2:157760956-157760956	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1438C>T; p.Q480*; 2:157737623-157737623	skin; mucosal	malignant_melanoma	Substitution - Nonsense
c.1469G>A; p.R490H; 2:157737592-157737592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.643+2T>C; p.?; 2:157774086-157774086	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1361G>T; p.R454M; 2:157738474-157738474	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.554A>G; p.D185G; 2:157774177-157774177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.321G>A; p.L107L; 2:157780347-157780347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.200A>G; p.Q67R; 2:157780468-157780468	liver	carcinoma	Substitution - Missense
c.993C>A; p.A331A; 2:157765994-157765994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.200A>G; p.Q67R; 2:157780468-157780468	liver	carcinoma	Substitution - Missense
c.92A>G; p.K31R; 2:157780576-157780576	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1094C>T; p.T365I; 2:157761050-157761050	skin; extremity	malignant_melanoma	Substitution - Missense
c.193G>A; p.V65I; 2:157780475-157780475	breast	carcinoma	Substitution - Missense
c.1411G>T; p.A471S; 2:157737650-157737650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.681G>T; p.W227C; 2:157770477-157770477	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.96C>G; p.L32L; 2:157780572-157780572	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.96C>G; p.L32L; 2:157780572-157780572	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.343C>T; p.P115S; 2:157778331-157778331	skin	malignant_melanoma	Substitution - Missense
c.343C>T; p.P115S; 2:157778331-157778331	skin	malignant_melanoma	Substitution - Missense
c.1502C>T; p.S501F; 2:157737559-157737559	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.494G>A; p.G165D; 2:157778180-157778180	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.752T>C; p.L251S; 2:157770406-157770406	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1523_1526delACTG; p.D508fs?; 2:157737535-157737538	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.983G>A; p.G328E; 2:157766004-157766004	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.983G>A; p.G328E; 2:157766004-157766004	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.983G>A; p.G328E; 2:157766004-157766004	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.982G>T; p.G328W; 2:157766005-157766005	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1228G>A; p.V410I; 2:157760916-157760916	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.101_102delTG; p.C37fs*1; 2:157780566-157780567	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Deletion - Frameshift
c.983G>T; p.G328V; 2:157766004-157766004	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.983G>T; p.G328V; 2:157766004-157766004	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.983G>T; p.G328V; 2:157766004-157766004	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.983G>T; p.G328V; 2:157766004-157766004	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.475C>T; p.P159S; 2:157778199-157778199	skin	malignant_melanoma	Substitution - Missense
c.475C>T; p.P159S; 2:157778199-157778199	skin	malignant_melanoma	Substitution - Missense
c.477C>T; p.P159P; 2:157778197-157778197	skin	malignant_melanoma	Substitution - coding silent
c.467G>A; p.R156H; 2:157778207-157778207	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.58A>G; p.S20G; 2:157799436-157799436	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1290G>A; p.P430P; 2:157738545-157738545	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.643+2T>G; p.?; 2:157774086-157774086	stomach	carcinoma; adenocarcinoma	Unknown
c.316C>T; p.Q106*; 2:157780352-157780352	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1467G>A; p.L489L; 2:157737594-157737594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.699C>T; p.A233A; 2:157770459-157770459	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.699C>T; p.A233A; 2:157770459-157770459	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2T>C; p.M1T; 2:157799492-157799492	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.919C>A; p.R307R; 2:157766068-157766068	kidney	other; neoplasm	Substitution - coding silent
c.704A>G; p.K235R; 2:157770454-157770454	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.292T>C; p.W98R; 2:157780376-157780376	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.511A>T; p.I171F; 2:157778163-157778163	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1022A>T; p.N341I; 2:157765965-157765965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1218C>A; p.A406A; 2:157760926-157760926	skin	malignant_melanoma	Substitution - coding silent
c.925G>C; p.V309L; 2:157766062-157766062	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.399C>T; p.F133F; 2:157778275-157778275	oesophagus	carcinoma	Substitution - coding silent
c.298A>G; p.N100D; 2:157780370-157780370	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.476C>T; p.P159L; 2:157778198-157778198	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1066+1G>A; p.?; 2:157765920-157765920	skin	malignant_melanoma	Unknown
c.242G>A; p.C81Y; 2:157780426-157780426	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.548T>C; p.L183S; 2:157774183-157774183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1467G>T; p.L489L; 2:157737594-157737594	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.112_113insTG; p.E38fs*21; 2:157780555-157780556	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1188C>T; p.F396F; 2:157760956-157760956	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1188C>T; p.F396F; 2:157760956-157760956	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188C>T; p.F396F; 2:157760956-157760956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.112_113insTG; p.E38fs*21; 2:157780555-157780556	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1264+7A>G; p.?; 2:157760873-157760873	liver	carcinoma	Unknown
c.747G>A; p.T249T; 2:157770411-157770411	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1264+7A>G; p.?; 2:157760873-157760873	liver	carcinoma	Unknown
c.1507G>A; p.D503N; 2:157737554-157737554	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.773G>T; p.R258M; 2:157770385-157770385	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.96C>T; p.L32L; 2:157780572-157780572	skin	malignant_melanoma	Substitution - coding silent
c.1484T>C; p.L495S; 2:157737577-157737577	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.134A>G; p.E45G; 2:157780534-157780534	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.617G>A; p.R206H; 2:157774114-157774114	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.869C>T; p.S290L; 2:157766118-157766118	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>A; p.R206H; 2:157774114-157774114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.869C>T; p.S290L; 2:157766118-157766118	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>A; p.R206H; 2:157774114-157774114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.617G>A; p.R206H; 2:157774114-157774114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.617G>A; p.R206H; 2:157774114-157774114	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.313G>A; p.A105T; 2:157780355-157780355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database