Entrez Gene

Basic Information
Gene ID	79677
Name	SMC6
Synonymous	structural maintenance of chromosomes 6;SMC6;structural maintenance of chromosomes 6
Definition	SMC protein 6\|SMC6 structural maintenance of chromosomes 6-like 1\|structural maintenance of chromosomes protein 6
Position	2p24.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2952G>T; p.M984I; 2:17670534-17670534	thyroid	other; neoplasm	Substitution - Missense
c.115A>G; p.T39A; 2:17745832-17745832	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2457A>C; p.E819D; 2:17696364-17696364	breast	carcinoma	Substitution - Missense
c.1544G>A; p.R515Q; 2:17715047-17715047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1787C>T; p.A596V; 2:17708697-17708697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3197G>A; p.R1066Q; 2:17665578-17665578	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1441G>T; p.G481C; 2:17716170-17716170	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2173C>T; p.R725W; 2:17701879-17701879	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3208C>T; p.P1070S; 2:17665567-17665567	skin	malignant_melanoma	Substitution - Missense
c.874G>T; p.A292S; 2:17721011-17721011	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.895A>C; p.I299L; 2:17720990-17720990	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.801G>T; p.M267I; 2:17721187-17721187	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1867G>T; p.V623L; 2:17707358-17707358	breast	carcinoma	Substitution - Missense
c.1550C>T; p.P517L; 2:17715041-17715041	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1870A>T; p.M624L; 2:17707355-17707355	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.691G>T; p.E231*; 2:17725292-17725292	breast	carcinoma	Substitution - Nonsense
c.853G>T; p.E285*; 2:17721032-17721032	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.728G>A; p.R243Q; 2:17721260-17721260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.788G>T; p.G263V; 2:17721200-17721200	prostate	carcinoma	Substitution - Missense
c.100G>T; p.E34*; 2:17745847-17745847	liver	carcinoma	Substitution - Nonsense
c.1825G>C; p.E609Q; 2:17708659-17708659	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.728G>A; p.R243Q; 2:17721260-17721260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1898G>A; p.C633Y; 2:17707327-17707327	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.687delG; p.E231fs*17; 2:17725296-17725296	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.3152A>C; p.Q1051P; 2:17666429-17666429	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1354G>T; p.E452*; 2:17716257-17716257	breast	carcinoma	Substitution - Nonsense
c.1258T>C; p.F420L; 2:17716829-17716829	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.736G>T; p.E246*; 2:17721252-17721252	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.1453C>T; p.P485S; 2:17716158-17716158	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1272_1275delAAAT; p.E424fs*14; 2:17716812-17716815	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.1122T>C; p.Y374Y; 2:17717147-17717147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.745C>T; p.R249C; 2:17721243-17721243	breast	carcinoma	Substitution - Missense
c.3007C>T; p.L1003L; 2:17670479-17670479	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3007C>T; p.L1003L; 2:17670479-17670479	liver	carcinoma	Substitution - coding silent
c.2436delA; p.K812fs*18; 2:17696385-17696385	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2436delA; p.K812fs*18; 2:17696385-17696385	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1390A>G; p.R464G; 2:17716221-17716221	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1390A>G; p.R464G; 2:17716221-17716221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1168G>A; p.E390K; 2:17717101-17717101	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1168G>A; p.E390K; 2:17717101-17717101	skin	malignant_melanoma	Substitution - Missense
c.1585G>A; p.G529R; 2:17715006-17715006	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2856G>A; p.R952R; 2:17678913-17678913	skin	malignant_melanoma	Substitution - coding silent
c.1180delA; p.S394fs*20; 2:17717089-17717089	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1180delA; p.S394fs*20; 2:17717089-17717089	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1180delA; p.S394fs*20; 2:17717089-17717089	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1180delA; p.S394fs*20; 2:17717089-17717089	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.308G>T; p.G103V; 2:17738257-17738257	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2327C>G; p.A776G; 2:17700275-17700275	NS	NS	Substitution - Missense
c.1294G>A; p.E432K; 2:17716793-17716793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1552G>T; p.E518*; 2:17715039-17715039	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2446C>T; p.R816*; 2:17696375-17696375	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.243delG; p.K82fs*9; 2:17738324-17738324	breast	carcinoma	Deletion - Frameshift
c.243delG; p.K82fs*9; 2:17738324-17738324	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.243delG; p.K82fs*9; 2:17738324-17738324	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.243delG; p.K82fs*9; 2:17738324-17738324	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1346+1G>A; p.?; 2:17716740-17716740	oesophagus	carcinoma; adenocarcinoma	Unknown
c.875C>T; p.A292V; 2:17721010-17721010	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.875C>T; p.A292V; 2:17721010-17721010	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2911-1G>C; p.?; 2:17670576-17670576	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1555C>T; p.L519F; 2:17715036-17715036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1534A>T; p.I512F; 2:17715057-17715057	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2854C>T; p.R952W; 2:17678915-17678915	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2854C>T; p.R952W; 2:17678915-17678915	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1173G>T; p.L391L; 2:17717096-17717096	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2893G>T; p.E965*; 2:17678876-17678876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.510G>C; p.E170D; 2:17731111-17731111	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2577A>G; p.E859E; 2:17695253-17695253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2735T>C; p.L912S; 2:17683707-17683707	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2735T>C; p.L912S; 2:17683707-17683707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2742G>T; p.K914N; 2:17683700-17683700	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.2735T>C; p.L912S; 2:17683707-17683707	pancreas	carcinoma	Substitution - Missense
c.2160_2161insA; p.I721fs*3; 2:17701891-17701892	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2268_2269delGG; p.E757fs*13; 2:17700333-17700334	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	liver	carcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	NS	malignant_melanoma	Deletion - Frameshift
c.2561G>T; p.C854F; 2:17695269-17695269	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228delA; p.I410fs*4; 2:17716859-17716859	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1228_1229insA; p.I410fs*40; 2:17716858-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1228_1229insA; p.I410fs*40; 2:17716858-17716859	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1228_1229insA; p.I410fs*40; 2:17716858-17716859	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1228_1229insA; p.I410fs*40; 2:17716858-17716859	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1694C>T; p.S565F; 2:17714897-17714897	breast	carcinoma	Substitution - Missense
c.2401T>A; p.L801I; 2:17696420-17696420	skin	malignant_melanoma	Substitution - Missense
c.150T>C; p.S50S; 2:17741700-17741700	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1159C>T; p.R387*; 2:17717110-17717110	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2648C>T; p.A883V; 2:17695182-17695182	pancreas	carcinoma	Substitution - Missense
c.3122G>A; p.R1041H; 2:17666459-17666459	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2663G>A; p.R888Q; 2:17695167-17695167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1248A>T; p.R416S; 2:17716839-17716839	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1332A>G; p.E444E; 2:17716755-17716755	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1658A>G; p.Y553C; 2:17714933-17714933	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.1427G>C; p.R476P; 2:17716184-17716184	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.642G>A; p.T214T; 2:17725341-17725341	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3029C>T; p.P1010L; 2:17670457-17670457	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.642G>A; p.T214T; 2:17725341-17725341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.642G>A; p.T214T; 2:17725341-17725341	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2097T>C; p.N699N; 2:17703202-17703202	breast	carcinoma	Substitution - coding silent
c.642G>A; p.T214T; 2:17725341-17725341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.721G>T; p.E241*; 2:17725262-17725262	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3226A>G; p.T1076A; 2:17665549-17665549	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2130T>C; p.Y710Y; 2:17703169-17703169	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1321G>C; p.D441H; 2:17716766-17716766	skin	malignant_melanoma	Substitution - Missense
c.2037G>A; p.T679T; 2:17703262-17703262	central_nervous_system; brain	glioma	Substitution - coding silent
c.1229_1230insA; p.S411fs*39; 2:17716857-17716858	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.1133A>C; p.K378T; 2:17717136-17717136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1229_1230insA; p.S411fs*39; 2:17716857-17716858	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2427T>C; p.D809D; 2:17696394-17696394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1394A>G; p.Q465R; 2:17716217-17716217	skin	malignant_melanoma	Substitution - Missense
c.1855G>T; p.V619L; 2:17707370-17707370	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3196C>T; p.R1066*; 2:17665579-17665579	breast	carcinoma; HER-positive_carcinoma	Substitution - Nonsense
c.3196C>T; p.R1066*; 2:17665579-17665579	bone	chondrosarcoma	Substitution - Nonsense
c.1975_1976TT>GC; p.F659>?; 2:17707249-17707250	lung	carcinoma; small_cell_carcinoma	Complex
c.694_697delAGAA; p.R232fs*15; 2:17725286-17725289	breast	carcinoma	Deletion - Frameshift
c.2744T>G; p.F915C; 2:17683698-17683698	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117G>A; p.E373K; 2:17717152-17717152	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2491A>G; p.K831E; 2:17696330-17696330	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2855G>A; p.R952Q; 2:17678914-17678914	pancreas	carcinoma	Substitution - Missense
c.1068G>A; p.K356K; 2:17718101-17718101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2007-1G>T; p.?; 2:17703293-17703293	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.29C>T; p.S10F; 2:17745918-17745918	skin	malignant_melanoma	Substitution - Missense
c.3215G>A; p.R1072K; 2:17665560-17665560	skin	malignant_melanoma	Substitution - Missense
c.1105C>T; p.R369*; 2:17717164-17717164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1172T>C; p.L391P; 2:17717097-17717097	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1160G>T; p.R387L; 2:17717109-17717109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.238+2T>C; p.?; 2:17741610-17741610	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1160G>T; p.R387L; 2:17717109-17717109	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2179C>T; p.L727F; 2:17701873-17701873	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.2179C>T; p.L727F; 2:17701873-17701873	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.746G>T; p.R249L; 2:17721242-17721242	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1940_1941insT; p.R648fs*6; 2:17707284-17707285	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Insertion - Frameshift
c.449G>A; p.G150E; 2:17731773-17731773	skin; trunk	malignant_melanoma	Substitution - Missense
c.678T>C; p.I226I; 2:17725305-17725305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.397G>A; p.A133T; 2:17731825-17731825	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1597G>A; p.A533T; 2:17714994-17714994	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1601A>G; p.Y534C; 2:17714990-17714990	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3143T>G; p.L1048R; 2:17666438-17666438	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.274G>A; p.G92S; 2:17738291-17738291	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3077G>A; p.R1026K; 2:17666504-17666504	skin	malignant_melanoma	Substitution - Missense
c.3006C>T; p.S1002S; 2:17670480-17670480	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2134G>A; p.E712K; 2:17703165-17703165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.694A>G; p.R232G; 2:17725289-17725289	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2761G>T; p.E921*; 2:17683681-17683681	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.718G>A; p.G240R; 2:17725265-17725265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2761G>T; p.E921*; 2:17683681-17683681	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2134G>T; p.E712*; 2:17703165-17703165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1092+1G>A; p.?; 2:17718076-17718076	pancreas	carcinoma; acinar_carcinoma	Unknown
c.2377C>T; p.L793L; 2:17700225-17700225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.959A>C; p.E320A; 2:17718210-17718210	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.695G>T; p.R232I; 2:17725288-17725288	oesophagus	carcinoma	Substitution - Missense
c.1782T>C; p.D594D; 2:17708702-17708702	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.301A>C; p.N101H; 2:17738264-17738264	liver	carcinoma	Substitution - Missense
c.2174G>A; p.R725Q; 2:17701878-17701878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2961G>A; p.L987L; 2:17670525-17670525	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.301A>C; p.N101H; 2:17738264-17738264	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2461A>C; p.K821Q; 2:17696360-17696360	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2057A>T; p.Q686L; 2:17703242-17703242	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.3199A>G; p.M1067V; 2:17665576-17665576	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2145G>T; p.M715I; 2:17701907-17701907	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.695G>A; p.R232K; 2:17725288-17725288	skin	malignant_melanoma	Substitution - Missense
c.574G>T; p.E192*; 2:17726439-17726439	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3004T>C; p.S1002P; 2:17670482-17670482	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1259T>C; p.F420S; 2:17716828-17716828	skin	malignant_melanoma	Substitution - Missense
c.2914C>T; p.Q972*; 2:17670572-17670572	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.2914C>T; p.Q972*; 2:17670572-17670572	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.209A>T; p.N70I; 2:17741641-17741641	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.389C>T; p.A130V; 2:17731833-17731833	skin	malignant_melanoma	Substitution - Missense
c.389C>T; p.A130V; 2:17731833-17731833	skin	malignant_melanoma	Substitution - Missense
c.335A>T; p.D112V; 2:17738230-17738230	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2818C>T; p.R940*; 2:17678951-17678951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2618G>A; p.R873Q; 2:17695212-17695212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2618G>A; p.R873Q; 2:17695212-17695212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2240A>G; p.E747G; 2:17700362-17700362	breast	carcinoma	Substitution - Missense
c.1748A>G; p.D583G; 2:17708736-17708736	ovary	other; neoplasm	Substitution - Missense
c.830A>G; p.E277G; 2:17721158-17721158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2943C>A; p.F981L; 2:17670543-17670543	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2301G>A; p.E767E; 2:17700301-17700301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2935G>A; p.A979T; 2:17670551-17670551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>A; p.D112N; 2:17738231-17738231	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1056T>C; p.D352D; 2:17718113-17718113	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2532G>C; p.E844D; 2:17696289-17696289	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1680A>T; p.P560P; 2:17714911-17714911	lung	carcinoma; adenocarcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]