Entrez Gene

Basic Information
Gene ID	375056
Name	MIA3
Synonymous	melanoma inhibitory activity family, member 3;MIA3;melanoma inhibitory activity family, member 3
Definition	C219-reactive peptide\|melanoma inhibitory activity protein 3\|transport and Golgi organization protein 1
Position	1q41
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2241T>G; p.P747P; 1:222629461-222629461	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2794G>T; p.E932*; 1:222630014-222630014	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4209+9G>A; p.?; 1:222653139-222653139	stomach	carcinoma; adenocarcinoma	Unknown
c.2031C>G; p.L677L; 1:222629251-222629251	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.298G>T; p.D100Y; 1:222624798-222624798	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2031C>G; p.L677L; 1:222629251-222629251	pancreas	carcinoma	Substitution - coding silent
c.3929C>A; p.S1310Y; 1:222651996-222651996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.91C>T; p.R31W; 1:222618201-222618201	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2886G>A; p.A962A; 1:222630106-222630106	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.717A>C; p.K239N; 1:222627937-222627937	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4524A>G; p.G1508G; 1:222654710-222654710	liver	carcinoma	Substitution - coding silent
c.4524A>G; p.G1508G; 1:222654710-222654710	liver	carcinoma	Substitution - coding silent
c.2476G>C; p.E826Q; 1:222629696-222629696	breast	carcinoma	Substitution - Missense
c.1093C>T; p.Q365*; 1:222628313-222628313	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3233T>C; p.V1078A; 1:222632228-222632228	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3922_3925delAAGA; p.K1308fs*3; 1:222651989-222651992	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.721C>G; p.P241A; 1:222627941-222627941	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.873G>A; p.E291E; 1:222628093-222628093	breast	carcinoma	Substitution - coding silent
c.1164C>G; p.F388L; 1:222628384-222628384	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4593G>T; p.E1531D; 1:222654779-222654779	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.495G>T; p.M165I; 1:222627715-222627715	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1513A>T; p.N505Y; 1:222628733-222628733	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4593G>T; p.E1531D; 1:222654779-222654779	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4777A>G; p.T1593A; 1:222659628-222659628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.762C>T; p.V254V; 1:222627982-222627982	liver	carcinoma	Substitution - coding silent
c.762C>T; p.V254V; 1:222627982-222627982	liver	carcinoma	Substitution - coding silent
c.4875-3A>G; p.?; 1:222659903-222659903	pancreas	carcinoma	Unknown
c.1231_1232insA; p.E413fs*3; 1:222628451-222628452	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.5251G>A; p.D1751N; 1:222662321-222662321	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3184C>T; p.H1062Y; 1:222632179-222632179	central_nervous_system; brain	glioma	Substitution - Missense
c.1242T>A; p.D414E; 1:222628462-222628462	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.970G>A; p.D324N; 1:222628190-222628190	breast	carcinoma	Substitution - Missense
c.1866A>C; p.L622F; 1:222629086-222629086	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.535C>T; p.P179S; 1:222627755-222627755	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5250C>T; p.L1750L; 1:222662320-222662320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.360G>T; p.T120T; 1:222627580-222627580	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3399C>G; p.A1133A; 1:222633171-222633171	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4711C>T; p.R1571W; 1:222659454-222659454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.397C>T; p.H133Y; 1:222627617-222627617	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.4038C>T; p.C1346C; 1:222652284-222652284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1545C>T; p.D515D; 1:222628765-222628765	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.4038C>T; p.C1346C; 1:222652284-222652284	pancreas	carcinoma	Substitution - coding silent
c.982T>A; p.L328M; 1:222628202-222628202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.211C>T; p.P71S; 1:222621236-222621236	skin	malignant_melanoma	Substitution - Missense
c.4867A>G; p.R1623G; 1:222659794-222659794	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4028A>C; p.K1343T; 1:222652274-222652274	thyroid	carcinoma	Substitution - Missense
c.160G>C; p.E54Q; 1:222621185-222621185	breast	carcinoma	Substitution - Missense
c.3256G>A; p.D1086N; 1:222632251-222632251	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5641C>T; p.P1881S; 1:222665536-222665536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.164A>C; p.D55A; 1:222621189-222621189	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3221T>G; p.L1074R; 1:222632216-222632216	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3170-4C>G; p.?; 1:222632161-222632161	liver	carcinoma	Unknown
c.1897T>C; p.S633P; 1:222629117-222629117	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3170-4C>G; p.?; 1:222632161-222632161	liver	carcinoma	Unknown
c.4087-2A>T; p.?; 1:222653006-222653006	lung	carcinoma; adenocarcinoma	Unknown
c.1897T>C; p.S633P; 1:222629117-222629117	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3904G>A; p.D1302N; 1:222650898-222650898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.736A>G; p.N246D; 1:222627956-222627956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1624G>A; p.E542K; 1:222628844-222628844	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.24C>T; p.L8L; 1:222618134-222618134	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2030T>C; p.L677P; 1:222629250-222629250	breast	carcinoma	Substitution - Missense
c.1624G>A; p.E542K; 1:222628844-222628844	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5567C>A; p.P1856H; 1:222665462-222665462	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3965C>T; p.A1322V; 1:222652032-222652032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4285A>T; p.N1429Y; 1:222653303-222653303	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2194G>C; p.E732Q; 1:222629414-222629414	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2603C>T; p.A868V; 1:222629823-222629823	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4830A>C; p.R1610S; 1:222659757-222659757	liver	carcinoma	Substitution - Missense
c.3294G>A; p.V1098V; 1:222632289-222632289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4215G>C; p.L1405F; 1:222653233-222653233	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1018A>G; p.K340E; 1:222628238-222628238	central_nervous_system; brain	glioma	Substitution - Missense
c.1448C>T; p.T483I; 1:222628668-222628668	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2637C>T; p.D879D; 1:222629857-222629857	breast	carcinoma	Substitution - coding silent
c.2638C>T; p.H880Y; 1:222629858-222629858	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4495C>T; p.R1499C; 1:222654681-222654681	pancreas	carcinoma	Substitution - Missense
c.2323A>C; p.I775L; 1:222629543-222629543	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>T; p.G50C; 1:222621173-222621173	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3960G>T; p.M1320I; 1:222652027-222652027	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.497delA; p.N168fs*15; 1:222627717-222627717	lung	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.497delA; p.N168fs*15; 1:222627717-222627717	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.497delA; p.N168fs*15; 1:222627717-222627717	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.805A>C; p.K269Q; 1:222628025-222628025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3442C>A; p.L1148I; 1:222633214-222633214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5419G>T; p.G1807C; 1:222665314-222665314	skin	malignant_melanoma	Substitution - Missense
c.3916G>A; p.E1306K; 1:222651983-222651983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5600C>T; p.P1867L; 1:222665495-222665495	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.271G>T; p.G91*; 1:222624771-222624771	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.4170T>G; p.D1390E; 1:222653091-222653091	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4183C>T; p.L1395F; 1:222653104-222653104	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2943T>G; p.A981A; 1:222630163-222630163	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.789C>A; p.A263A; 1:222628009-222628009	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.789C>A; p.A263A; 1:222628009-222628009	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.789C>A; p.A263A; 1:222628009-222628009	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2504A>G; p.K835R; 1:222629724-222629724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4534G>T; p.E1512*; 1:222654720-222654720	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.391G>A; p.D131N; 1:222627611-222627611	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5378G>A; p.G1793E; 1:222664113-222664113	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3369T>C; p.I1123I; 1:222633141-222633141	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5642C>A; p.P1881Q; 1:222665537-222665537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1481C>G; p.T494S; 1:222628701-222628701	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4074_4075insA; p.E1361fs*12; 1:222652320-222652321	thyroid	carcinoma; anaplastic_carcinoma	Insertion - Frameshift
c.2713C>T; p.H905Y; 1:222629933-222629933	skin	malignant_melanoma	Substitution - Missense
c.2215G>T; p.A739S; 1:222629435-222629435	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2794_2795insAAC; p.Q934_S935insQ; 1:222630014-222630015	oesophagus	carcinoma; adenocarcinoma	Insertion - In frame
c.1734T>C; p.G578G; 1:222628954-222628954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5244G>A; p.R1748R; 1:222662314-222662314	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1084G>C; p.D362H; 1:222628304-222628304	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2565C>T; p.N855N; 1:222629785-222629785	salivary_gland; tongue	carcinoma; adenoid_cystic_carcinoma	Substitution - coding silent
c.2655G>A; p.K885K; 1:222629875-222629875	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2471C>A; p.P824Q; 1:222629691-222629691	skin	malignant_melanoma	Substitution - Missense
c.1814A>G; p.K605R; 1:222629034-222629034	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1814A>G; p.K605R; 1:222629034-222629034	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1814A>G; p.K605R; 1:222629034-222629034	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1814A>G; p.K605R; 1:222629034-222629034	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.168C>A; p.F56L; 1:222621193-222621193	breast	carcinoma	Substitution - Missense
c.1814A>G; p.K605R; 1:222629034-222629034	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1068G>T; p.Q356H; 1:222628288-222628288	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1068G>T; p.Q356H; 1:222628288-222628288	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4509A>C; p.Q1503H; 1:222654695-222654695	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5647G>A; p.G1883S; 1:222665542-222665542	skin	malignant_melanoma	Substitution - Missense
c.185G>A; p.R62H; 1:222621210-222621210	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.185G>A; p.R62H; 1:222621210-222621210	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.404A>G; p.Y135C; 1:222627624-222627624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2158G>A; p.V720I; 1:222629378-222629378	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1148G>T; p.W383L; 1:222628368-222628368	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3496G>C; p.D1166H; 1:222645572-222645572	breast	carcinoma	Substitution - Missense
c.1829C>T; p.S610L; 1:222629049-222629049	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1362T>C; p.N454N; 1:222628582-222628582	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5063G>A; p.R1688K; 1:222660264-222660264	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2314G>T; p.D772Y; 1:222629534-222629534	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.907T>C; p.F303L; 1:222628127-222628127	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.907T>C; p.F303L; 1:222628127-222628127	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4900G>A; p.A1634T; 1:222659931-222659931	breast	carcinoma	Substitution - Missense
c.3255G>A; p.L1085L; 1:222632250-222632250	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5261A>G; p.K1754R; 1:222662331-222662331	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2393G>A; p.G798E; 1:222629613-222629613	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3479T>A; p.L1160Q; 1:222645555-222645555	liver	carcinoma	Substitution - Missense
c.2545G>T; p.D849Y; 1:222629765-222629765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4979C>A; p.P1660H; 1:222660180-222660180	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.146G>A; p.R49H; 1:222621171-222621171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4293A>T; p.S1431S; 1:222653311-222653311	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4293A>T; p.S1431S; 1:222653311-222653311	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2820G>C; p.Q940H; 1:222630040-222630040	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.617C>T; p.T206I; 1:222627837-222627837	pancreas	carcinoma	Substitution - Missense
c.3217G>T; p.E1073*; 1:222632212-222632212	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.617C>T; p.T206I; 1:222627837-222627837	pancreas	carcinoma	Substitution - Missense
c.2796A>G; p.E932E; 1:222630016-222630016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2681C>G; p.S894C; 1:222629901-222629901	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3579T>A; p.F1193L; 1:222645655-222645655	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4395G>A; p.S1465S; 1:222654406-222654406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4817G>A; p.R1606H; 1:222659744-222659744	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.252A>T; p.E84D; 1:222621277-222621277	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4496G>A; p.R1499H; 1:222654682-222654682	central_nervous_system; brain	glioma	Substitution - Missense
c.3924G>T; p.K1308N; 1:222651991-222651991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1768G>A; p.A590T; 1:222628988-222628988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1768G>A; p.A590T; 1:222628988-222628988	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1768G>A; p.A590T; 1:222628988-222628988	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2642A>G; p.E881G; 1:222629862-222629862	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1226A>T; p.E409V; 1:222628446-222628446	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5649C>T; p.G1883G; 1:222665544-222665544	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2818C>A; p.Q940K; 1:222630038-222630038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5128C>A; p.P1710T; 1:222662070-222662070	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.420T>C; p.L140L; 1:222627640-222627640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1636G>A; p.G546R; 1:222628856-222628856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5059G>A; p.V1687M; 1:222660260-222660260	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1422C>T; p.S474S; 1:222628642-222628642	skin	malignant_melanoma	Substitution - coding silent
c.5479G>A; p.D1827N; 1:222665374-222665374	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4567C>T; p.L1523L; 1:222654753-222654753	breast	carcinoma	Substitution - coding silent
c.292C>T; p.P98S; 1:222624792-222624792	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4567C>T; p.L1523L; 1:222654753-222654753	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1510C>A; p.L504I; 1:222628730-222628730	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2148C>T; p.F716F; 1:222629368-222629368	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2231delA; p.N746fs*21; 1:222629451-222629451	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1844G>A; p.R615H; 1:222629064-222629064	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1811C>T; p.A604V; 1:222629031-222629031	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2812C>T; p.R938W; 1:222630032-222630032	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4651A>T; p.R1551W; 1:222658765-222658765	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.147C>T; p.R49R; 1:222621172-222621172	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.571A>G; p.S191G; 1:222627791-222627791	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3575C>T; p.S1192L; 1:222645651-222645651	skin	malignant_melanoma	Substitution - Missense
c.3575C>T; p.S1192L; 1:222645651-222645651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.720G>T; p.V240V; 1:222627940-222627940	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.293C>T; p.P98L; 1:222624793-222624793	skin	malignant_melanoma	Substitution - Missense
c.4809C>A; p.L1603L; 1:222659736-222659736	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2437G>T; p.E813*; 1:222629657-222629657	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5654G>C; p.R1885T; 1:222665549-222665549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2308C>T; p.H770Y; 1:222629528-222629528	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4288G>C; p.D1430H; 1:222653306-222653306	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3982-2A>G; p.?; 1:222652226-222652226	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.365T>A; p.F122Y; 1:222627585-222627585	liver	carcinoma	Substitution - Missense
c.365T>A; p.F122Y; 1:222627585-222627585	liver	carcinoma	Substitution - Missense
c.3620G>T; p.R1207I; 1:222648839-222648839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4424A>G; p.Q1475R; 1:222654435-222654435	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2258A>T; p.Q753L; 1:222629478-222629478	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4319G>C; p.G1440A; 1:222653337-222653337	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 1:222645633-222645633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.284G>A; p.G95E; 1:222624784-222624784	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4704T>G; p.T1568T; 1:222658818-222658818	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4479G>T; p.K1493N; 1:222654665-222654665	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4567C>A; p.L1523M; 1:222654753-222654753	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2286C>T; p.D762D; 1:222629506-222629506	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.167T>C; p.F56S; 1:222621192-222621192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1924A>C; p.R642R; 1:222629144-222629144	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1791A>G; p.G597G; 1:222629011-222629011	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2441G>A; p.R814H; 1:222629661-222629661	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3416T>C; p.V1139A; 1:222633188-222633188	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1260C>T; p.V420V; 1:222628480-222628480	bone; humerus	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4929A>G; p.V1643V; 1:222659960-222659960	liver	carcinoma	Substitution - coding silent
c.4652G>T; p.R1551M; 1:222658766-222658766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2441G>A; p.R814H; 1:222629661-222629661	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4630G>A; p.E1544K; 1:222658744-222658744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4087-1G>A; p.?; 1:222653007-222653007	pancreas	carcinoma; acinar_carcinoma	Unknown
c.3508C>T; p.P1170S; 1:222645584-222645584	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3508C>T; p.P1170S; 1:222645584-222645584	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1656T>C; p.G552G; 1:222628876-222628876	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1656T>C; p.G552G; 1:222628876-222628876	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3357T>C; p.P1119P; 1:222633129-222633129	skin	malignant_melanoma	Substitution - coding silent
c.2509C>T; p.Q837*; 1:222629729-222629729	prostate	carcinoma	Substitution - Nonsense
c.2990G>A; p.R997H; 1:222630210-222630210	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1729C>A; p.L577M; 1:222628949-222628949	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.915G>A; p.E305E; 1:222628135-222628135	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4607+1G>C; p.?; 1:222654794-222654794	breast	carcinoma	Unknown
c.579C>T; p.F193F; 1:222627799-222627799	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4795C>T; p.H1599Y; 1:222659646-222659646	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.4795C>T; p.H1599Y; 1:222659646-222659646	pancreas	carcinoma	Substitution - Missense
c.4378-1G>C; p.?; 1:222654388-222654388	ovary	carcinoma; serous_carcinoma	Unknown
c.3970G>A; p.E1324K; 1:222652037-222652037	breast	carcinoma	Substitution - Missense
c.5426G>A; p.R1809H; 1:222665321-222665321	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.803A>G; p.K268R; 1:222628023-222628023	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3644A>G; p.Q1215R; 1:222650304-222650304	skin	malignant_melanoma	Substitution - Missense
c.3088T>C; p.Y1030H; 1:222630308-222630308	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2820G>A; p.Q940Q; 1:222630040-222630040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5621C>A; p.P1874H; 1:222665516-222665516	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4862A>C; p.N1621T; 1:222659789-222659789	liver	carcinoma	Substitution - Missense
c.4862A>C; p.N1621T; 1:222659789-222659789	liver	carcinoma	Substitution - Missense
c.1927G>T; p.E643*; 1:222629147-222629147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.496_497insA; p.N168fs*3; 1:222627716-222627717	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3022G>A; p.E1008K; 1:222630242-222630242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4995C>G; p.G1665G; 1:222660196-222660196	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1903C>T; p.P635S; 1:222629123-222629123	skin	malignant_melanoma	Substitution - Missense
c.1610A>T; p.K537I; 1:222628830-222628830	liver	carcinoma	Substitution - Missense
c.1399A>C; p.K467Q; 1:222628619-222628619	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1610A>T; p.K537I; 1:222628830-222628830	liver	carcinoma	Substitution - Missense
c.1863A>T; p.E621D; 1:222629083-222629083	breast	carcinoma	Substitution - Missense
c.5087G>A; p.R1696Q; 1:222660288-222660288	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4062T>A; p.A1354A; 1:222652308-222652308	breast	carcinoma	Substitution - coding silent
c.4236G>A; p.L1412L; 1:222653254-222653254	pancreas	carcinoma	Substitution - coding silent
c.316C>A; p.H106N; 1:222624816-222624816	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5446G>T; p.E1816*; 1:222665341-222665341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2283T>C; p.P761P; 1:222629503-222629503	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.44G>A; p.R15Q; 1:222618154-222618154	skin	malignant_melanoma	Substitution - Missense
c.3576G>A; p.S1192S; 1:222645652-222645652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.885C>T; p.L295L; 1:222628105-222628105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4618C>G; p.Q1540E; 1:222658732-222658732	skin	malignant_melanoma	Substitution - Missense
c.2377G>A; p.E793K; 1:222629597-222629597	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2611C>T; p.P871S; 1:222629831-222629831	stomach	adenocarcinoma	Substitution - Missense
c.1621C>T; p.H541Y; 1:222628841-222628841	skin	malignant_melanoma	Substitution - Missense
c.1200G>A; p.T400T; 1:222628420-222628420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3053T>G; p.L1018R; 1:222630273-222630273	pancreas	carcinoma	Substitution - Missense
c.3869T>A; p.L1290Q; 1:222650863-222650863	liver	carcinoma	Substitution - Missense
c.3869T>A; p.L1290Q; 1:222650863-222650863	liver	carcinoma	Substitution - Missense
c.184C>T; p.R62C; 1:222621209-222621209	skin	malignant_melanoma	Substitution - Missense
c.5654G>A; p.R1885K; 1:222665549-222665549	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4642A>G; p.R1548G; 1:222658756-222658756	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4520C>G; p.A1507G; 1:222654706-222654706	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3203G>A; p.R1068Q; 1:222632198-222632198	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1909G>A; p.E637K; 1:222629129-222629129	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5373C>A; p.L1791L; 1:222664108-222664108	liver	carcinoma	Substitution - coding silent
c.427T>C; p.F143L; 1:222627647-222627647	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1084G>T; p.D362Y; 1:222628304-222628304	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4294G>C; p.D1432H; 1:222653312-222653312	skin	malignant_melanoma	Substitution - Missense
c.5289T>C; p.P1763P; 1:222664024-222664024	breast	carcinoma	Substitution - coding silent
c.2206G>A; p.A736T; 1:222629426-222629426	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2206G>A; p.A736T; 1:222629426-222629426	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3336A>T; p.P1112P; 1:222633108-222633108	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4607+1G>T; p.?; 1:222654794-222654794	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1691G>A; p.G564E; 1:222628911-222628911	breast	carcinoma	Substitution - Missense
c.2968G>A; p.A990T; 1:222630188-222630188	skin	malignant_melanoma	Substitution - Missense
c.706G>A; p.D236N; 1:222627926-222627926	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4383G>A; p.Q1461Q; 1:222654394-222654394	breast	carcinoma	Substitution - coding silent
c.1252G>A; p.A418T; 1:222628472-222628472	skin	malignant_melanoma	Substitution - Missense
c.5086C>T; p.R1696*; 1:222660287-222660287	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4816C>T; p.R1606C; 1:222659743-222659743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4458T>C; p.C1486C; 1:222654469-222654469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2500A>G; p.I834V; 1:222629720-222629720	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1822A>G; p.T608A; 1:222629042-222629042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1466A>C; p.N489T; 1:222628686-222628686	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3781G>T; p.E1261*; 1:222650694-222650694	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2914_2915insA; p.V974fs*4; 1:222630134-222630135	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1966C>T; p.P656S; 1:222629186-222629186	skin	malignant_melanoma	Substitution - Missense
c.1727C>T; p.S576F; 1:222628947-222628947	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3052C>A; p.L1018I; 1:222630272-222630272	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2386G>A; p.A796T; 1:222629606-222629606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.354+2T>C; p.?; 1:222624856-222624856	lung	carcinoma; small_cell_carcinoma	Unknown
c.1966C>T; p.P656S; 1:222629186-222629186	skin	malignant_melanoma	Substitution - Missense
c.5631A>G; p.R1877R; 1:222665526-222665526	liver	carcinoma	Substitution - coding silent
c.5631A>G; p.R1877R; 1:222665526-222665526	liver	carcinoma	Substitution - coding silent
c.5631A>G; p.R1877R; 1:222665526-222665526	liver	carcinoma	Substitution - coding silent
c.3870A>G; p.L1290L; 1:222650864-222650864	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4771-1G>T; p.?; 1:222659621-222659621	breast	carcinoma	Unknown
c.5637A>G; p.L1879L; 1:222665532-222665532	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3776C>G; p.S1259C; 1:222650689-222650689	breast	carcinoma	Substitution - Missense
c.5C>A; p.A2D; 1:222618115-222618115	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2922C>G; p.V974V; 1:222630142-222630142	central_nervous_system; brain	glioma	Substitution - coding silent
c.2811G>T; p.Q937H; 1:222630031-222630031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5239A>T; p.T1747S; 1:222662309-222662309	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1250A>G; p.D417G; 1:222628470-222628470	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5028A>T; p.E1676D; 1:222660229-222660229	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2577G>A; p.E859E; 1:222629797-222629797	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4990A>T; p.N1664Y; 1:222660191-222660191	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4706A>C; p.Y1569S; 1:222658820-222658820	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1223C>A; p.S408*; 1:222628443-222628443	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5508A>T; p.L1836F; 1:222665403-222665403	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense

COSMIC somatic mutation [Top]