Entrez Gene

Basic Information
Gene ID	860
Name	RUNX2

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1397C>T; p.P466L; 6:45547136-45547136	skin; neck	malignant_melanoma	Substitution - Missense
c.1485C>T; p.D495D; 6:45547224-45547224	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1485C>T; p.D495D; 6:45547224-45547224	stomach	adenocarcinoma	Substitution - coding silent
c.195A>G; p.Q65Q; 6:45422729-45422729	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.195A>G; p.Q65Q; 6:45422729-45422729	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.195A>G; p.Q65Q; 6:45422729-45422729	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.195A>G; p.Q65Q; 6:45422729-45422729	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.195A>G; p.Q65Q; 6:45422729-45422729	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.195A>G; p.Q65Q; 6:45422729-45422729	central_nervous_system; brain	glioma	Substitution - coding silent
c.195A>G; p.Q65Q; 6:45422729-45422729	central_nervous_system; brain	glioma	Substitution - coding silent
c.195A>G; p.Q65Q; 6:45422729-45422729	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.792G>A; p.Q264Q; 6:45492047-45492047	skin	malignant_melanoma	Substitution - coding silent
c.567C>T; p.G189G; 6:45432006-45432006	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1088G>C; p.G363A; 6:45546827-45546827	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.496G>A; p.A166T; 6:45431935-45431935	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.501G>T; p.E167D; 6:45431940-45431940	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1243A>G; p.T415A; 6:45546982-45546982	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.568C>T; p.R190W; 6:45432007-45432007	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1532G>A; p.G511D; 6:45547271-45547271	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.999C>T; p.T333T; 6:45512385-45512385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1380delG; p.G462fs*22; 6:45547119-45547119	breast	carcinoma; basal_(triple-negative)_carcinoma	Deletion - Frameshift
c.1380delG; p.G462fs*22; 6:45547119-45547119	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.558A>C; p.R186S; 6:45431997-45431997	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.940T>C; p.S314P; 6:45512326-45512326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.733C>T; p.R245C; 6:45491988-45491988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1378C>T; p.P460S; 6:45547117-45547117	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.606C>T; p.T202T; 6:45437972-45437972	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.984G>A; p.G328G; 6:45512370-45512370	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.975G>T; p.R325R; 6:45512361-45512361	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206G>A; p.P402P; 6:45546945-45546945	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.660A>C; p.T220T; 6:45438026-45438026	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1414C>A; p.P472T; 6:45547153-45547153	liver	carcinoma	Substitution - Missense
c.1414C>A; p.P472T; 6:45547153-45547153	liver	carcinoma	Substitution - Missense
c.1010G>T; p.R337M; 6:45512396-45512396	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1010G>T; p.R337M; 6:45512396-45512396	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1565G>T; p.*522L; 6:45547304-45547304	large_intestine; rectum	carcinoma; adenocarcinoma	Nonstop extension
c.473C>T; p.A158V; 6:45431912-45431912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.217_246del30; p.A80_A89del10; 6:45422751-45422780	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Deletion - In frame
c.489T>G; p.N163K; 6:45431928-45431928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1107T>C; p.P369P; 6:45546846-45546846	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1096G>T; p.E366*; 6:45546835-45546835	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.801G>A; p.R267R; 6:45492056-45492056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.795C>A; p.N265K; 6:45492050-45492050	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.974G>C; p.R325P; 6:45512360-45512360	skin	malignant_melanoma	Substitution - Missense
c.1068C>T; p.L356L; 6:45545263-45545263	breast	carcinoma	Substitution - coding silent
c.1533C>T; p.G511G; 6:45547272-45547272	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.160_180del21; p.Q65_Q71delQQQQQQQ; 6:45422694-45422714	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.918C>A; p.Y306*; 6:45512304-45512304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.684A>T; p.R228S; 6:45438050-45438050	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.684A>T; p.R228S; 6:45438050-45438050	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1349C>T; p.S450L; 6:45547088-45547088	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1349C>T; p.S450L; 6:45547088-45547088	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1088-1G>A; p.?; 6:45546826-45546826	skin	malignant_melanoma	Unknown
c.959C>T; p.P320L; 6:45512345-45512345	skin	malignant_melanoma	Substitution - Missense
c.414G>A; p.V138V; 6:45422948-45422948	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.211C>G; p.Q71E; 6:45422745-45422745	skin	malignant_melanoma	Substitution - Missense
c.211C>G; p.Q71E; 6:45422745-45422745	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1396C>T; p.P466S; 6:45547135-45547135	skin	malignant_melanoma	Substitution - Missense
c.231T>G; p.A77A; 6:45422765-45422765	liver	carcinoma	Substitution - coding silent
c.506G>A; p.R169Q; 6:45431945-45431945	skin	malignant_melanoma	Substitution - Missense
c.506G>A; p.R169Q; 6:45431945-45431945	breast	carcinoma	Substitution - Missense
c.480C>A; p.N160K; 6:45431919-45431919	prostate	carcinoma	Substitution - Missense
c.1397C>A; p.P466H; 6:45547136-45547136	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.187C>T; p.Q63*; 6:45422721-45422721	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1021G>T; p.D341Y; 6:45512407-45512407	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1397C>A; p.P466H; 6:45547136-45547136	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.189G>A; p.Q63Q; 6:45422723-45422723	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1325C>G; p.T442S; 6:45547064-45547064	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1400C>T; p.S467F; 6:45547139-45547139	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1019C>A; p.S340*; 6:45512405-45512405	breast	carcinoma	Substitution - Nonsense
c.859+1G>A; p.?; 6:45492115-45492115	skin	malignant_melanoma	Unknown
c.1231G>A; p.G411S; 6:45546970-45546970	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1231G>A; p.G411S; 6:45546970-45546970	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1203C>T; p.T401T; 6:45546942-45546942	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.174A>G; p.Q58Q; 6:45422708-45422708	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.174A>G; p.Q58Q; 6:45422708-45422708	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.174A>G; p.Q58Q; 6:45422708-45422708	skin	malignant_melanoma	Substitution - coding silent
c.175_177delCAG; p.Q71delQ; 6:45422709-45422711	skin	malignant_melanoma	Deletion - In frame
c.174A>G; p.Q58Q; 6:45422708-45422708	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.310G>T; p.E104*; 6:45422844-45422844	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.217_234del18; p.A84_A89delAAAAAA; 6:45422751-45422768	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Deletion - In frame
c.1369C>T; p.P457S; 6:45547108-45547108	skin	malignant_melanoma	Substitution - Missense
c.969C>A; p.S323S; 6:45512355-45512355	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1333C>A; p.L445I; 6:45547072-45547072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.557G>T; p.R186I; 6:45431996-45431996	breast	carcinoma	Substitution - Missense
c.1222A>T; p.M408L; 6:45546961-45546961	thyroid	other; neoplasm	Substitution - Missense
c.1355G>A; p.G452E; 6:45547094-45547094	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.782T>C; p.V261A; 6:45492037-45492037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.180G>A; p.Q60Q; 6:45422714-45422714	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.957C>A; p.T319T; 6:45512343-45512343	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1205C>T; p.P402L; 6:45546944-45546944	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.574G>T; p.G192*; 6:45432013-45432013	breast	carcinoma	Substitution - Nonsense
c.58G>A; p.D20N; 6:45328784-45328784	skin	malignant_melanoma	Substitution - Missense
c.1442C>T; p.T481M; 6:45547181-45547181	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>T; p.V203F; 6:45437973-45437973	liver	carcinoma	Substitution - Missense
c.820C>T; p.P274S; 6:45492075-45492075	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.464C>T; p.T155I; 6:45431903-45431903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1089T>C; p.G363G; 6:45546828-45546828	liver	carcinoma	Substitution - coding silent
c.1089T>C; p.G363G; 6:45546828-45546828	liver	carcinoma	Substitution - coding silent
c.550G>A; p.D184N; 6:45431989-45431989	large_intestine; colon	adenoma	Substitution - Missense
c.324C>T; p.D108D; 6:45422858-45422858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.550G>A; p.D184N; 6:45431989-45431989	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.550G>A; p.D184N; 6:45431989-45431989	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.512C>T; p.A171V; 6:45431951-45431951	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.379C>A; p.P127T; 6:45422913-45422913	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.349G>A; p.D117N; 6:45422883-45422883	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1187C>T; p.A396V; 6:45546926-45546926	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.349G>A; p.D117N; 6:45422883-45422883	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1118C>G; p.P373R; 6:45546857-45546857	breast	carcinoma	Substitution - Missense
c.1083G>T; p.Q361H; 6:45545278-45545278	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1413G>T; p.P471P; 6:45547152-45547152	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1034C>A; p.A345D; 6:45545229-45545229	kidney	other; neoplasm	Substitution - Missense
c.1034C>A; p.A345D; 6:45545229-45545229	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.973C>A; p.R325R; 6:45512359-45512359	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.84delC; p.S31fs*9; 6:45422618-45422618	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.84delC; p.S31fs*9; 6:45422618-45422618	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.734G>A; p.R245H; 6:45491989-45491989	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.84delC; p.S31fs*9; 6:45422618-45422618	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.84delC; p.S31fs*9; 6:45422618-45422618	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.84delC; p.S31fs*9; 6:45422618-45422618	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.84delC; p.S31fs*9; 6:45422618-45422618	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.84delC; p.S31fs*9; 6:45422618-45422618	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1345A>G; p.T449A; 6:45547084-45547084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1508C>A; p.S503Y; 6:45547247-45547247	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1307C>A; p.P436H; 6:45547046-45547046	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.78C>T; p.R26R; 6:45422612-45422612	ovary	other; neoplasm	Substitution - coding silent
c.435C>T; p.L145L; 6:45431874-45431874	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1540G>A; p.D514N; 6:45547279-45547279	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1225T>C; p.S409P; 6:45546964-45546964	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.233C>A; p.A78E; 6:45422767-45422767	liver	carcinoma	Substitution - Missense
c.233C>A; p.A78E; 6:45422767-45422767	liver	carcinoma	Substitution - Missense
c.192G>A; p.Q64Q; 6:45422726-45422726	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.192G>A; p.Q64Q; 6:45422726-45422726	central_nervous_system; brain	glioma	Substitution - coding silent
c.192G>A; p.Q64Q; 6:45422726-45422726	central_nervous_system; brain	glioma	Substitution - coding silent
c.960G>T; p.P320P; 6:45512346-45512346	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1430C>T; p.S477L; 6:45547169-45547169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.477delT; p.N160fs*16; 6:45431916-45431916	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.86C>A; p.P29H; 6:45422620-45422620	pancreas	carcinoma	Substitution - Missense
c.86C>A; p.P29H; 6:45422620-45422620	pancreas	carcinoma	Substitution - Missense
c.458T>C; p.V153A; 6:45431897-45431897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.925C>G; p.Q309E; 6:45512311-45512311	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1442_1443insG; p.L482fs*8; 6:45547181-45547182	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.607G>A; p.V203I; 6:45437973-45437973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.V203I; 6:45437973-45437973	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.965C>T; p.S322F; 6:45512351-45512351	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1005G>A; p.V335V; 6:45512391-45512391	skin	malignant_melanoma	Substitution - coding silent
c.1380G>A; p.P460P; 6:45547119-45547119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.363C>T; p.F121F; 6:45422897-45422897	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.732C>T; p.D244D; 6:45491987-45491987	kidney	other; neoplasm	Substitution - coding silent
c.732C>T; p.D244D; 6:45491987-45491987	kidney	other; neoplasm	Substitution - coding silent
c.732C>T; p.D244D; 6:45491987-45491987	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

The somatic mutations from COSMIC database