Entrez Gene

Basic Information
Gene ID	5045
Name	FURIN

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.211G>A; p.G71R; 15:90876288-90876288	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1961C>T; p.P654L; 15:90881454-90881454	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1416C>T; p.T472T; 15:90880133-90880133	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1855_1856insC; p.Q621fs*8; 15:90881348-90881349	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1855_1856insC; p.Q621fs*8; 15:90881348-90881349	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.716C>T; p.S239L; 15:90878180-90878180	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.299T>G; p.V100G; 15:90876484-90876484	breast	carcinoma	Substitution - Missense
c.2216G>A; p.R739H; 15:90881709-90881709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2335G>T; p.E779*; 15:90881828-90881828	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2216G>A; p.R739H; 15:90881709-90881709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1861_1862insC; p.Q621fs*8; 15:90881354-90881355	large_intestine; colon	carcinoma	Insertion - Frameshift
c.488T>A; p.L163*; 15:90877011-90877011	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1572C>T; p.S524S; 15:90880706-90880706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1383C>T; p.I461I; 15:90880100-90880100	skin	malignant_melanoma	Substitution - coding silent
c.1016C>T; p.T339M; 15:90878939-90878939	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.311G>A; p.R104Q; 15:90876496-90876496	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2234delG; p.V747fs*1; 15:90881727-90881727	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1171C>T; p.R391W; 15:90879687-90879687	prostate	carcinoma	Substitution - Missense
c.1897G>T; p.V633L; 15:90881390-90881390	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1851G>C; p.G617G; 15:90881344-90881344	thyroid	other; neoplasm	Substitution - coding silent
c.1851G>C; p.G617G; 15:90881344-90881344	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1851G>C; p.G617G; 15:90881344-90881344	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1851G>C; p.G617G; 15:90881344-90881344	kidney	other; neoplasm	Substitution - coding silent
c.1565A>C; p.D522A; 15:90880699-90880699	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1694A>C; p.K565T; 15:90880942-90880942	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1565A>C; p.D522A; 15:90880699-90880699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2376C>T; p.S792S; 15:90881869-90881869	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2376C>T; p.S792S; 15:90881869-90881869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1404G>T; p.R468R; 15:90880121-90880121	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1972G>C; p.D658H; 15:90881465-90881465	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.248G>A; p.R83Q; 15:90876325-90876325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.827G>A; p.R276H; 15:90878291-90878291	pancreas	carcinoma	Substitution - Missense
c.1458C>A; p.H486Q; 15:90880175-90880175	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2325A>T; p.S775S; 15:90881818-90881818	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.116C>T; p.P39L; 15:90875856-90875856	skin	malignant_melanoma	Substitution - Missense
c.647C>T; p.A216V; 15:90877595-90877595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1711T>C; p.Y571H; 15:90880959-90880959	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1639T>C; p.W547R; 15:90880773-90880773	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.829G>T; p.G277W; 15:90878293-90878293	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1716C>T; p.G572G; 15:90880964-90880964	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1105G>A; p.A369T; 15:90879495-90879495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1005C>T; p.S335S; 15:90878928-90878928	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.452T>A; p.I151N; 15:90876975-90876975	skin	malignant_melanoma	Substitution - Missense
c.1282C>G; p.L428V; 15:90879890-90879890	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1448G>A; p.R483Q; 15:90880165-90880165	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1953C>G; p.C651W; 15:90881446-90881446	liver	carcinoma	Substitution - Missense
c.1953C>G; p.C651W; 15:90881446-90881446	liver	carcinoma	Substitution - Missense
c.242G>A; p.R81H; 15:90876319-90876319	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2233C>T; p.R745W; 15:90881726-90881726	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1895A>G; p.D632G; 15:90881388-90881388	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.779G>T; p.G260V; 15:90878243-90878243	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1369G>A; p.E457K; 15:90879977-90879977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.584G>A; p.G195D; 15:90877532-90877532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1466C>T; p.A489V; 15:90880183-90880183	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1466C>T; p.A489V; 15:90880183-90880183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.328T>G; p.Y110D; 15:90876513-90876513	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.970delG; p.G324fs*29; 15:90878893-90878893	liver	carcinoma	Deletion - Frameshift
c.2289C>T; p.P763P; 15:90881782-90881782	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1452G>A; p.L484L; 15:90880169-90880169	breast	carcinoma	Substitution - coding silent
c.121G>A; p.G41S; 15:90875861-90875861	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.686_700del15; p.G229_D233delGEVTD; 15:90878150-90878164	prostate	carcinoma	Deletion - In frame
c.425A>T; p.Y142F; 15:90876948-90876948	thyroid	other; neoplasm	Substitution - Missense
c.1055T>C; p.V352A; 15:90879445-90879445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.784A>C; p.T262P; 15:90878248-90878248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1854C>T; p.F618F; 15:90881347-90881347	skin	malignant_melanoma	Substitution - coding silent
c.2301G>A; p.W767*; 15:90881794-90881794	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.290A>G; p.E97G; 15:90876475-90876475	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.545C>T; p.P182L; 15:90877178-90877178	skin; extremity	malignant_melanoma	Substitution - Missense
c.448T>C; p.S150P; 15:90876971-90876971	skin	malignant_melanoma	Substitution - Missense
c.1746A>G; p.P582P; 15:90880994-90880994	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2131T>C; p.S711P; 15:90881624-90881624	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2131T>C; p.S711P; 15:90881624-90881624	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1530C>T; p.G510G; 15:90880247-90880247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1842C>T; p.C614C; 15:90881335-90881335	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.890_891insC; p.R298fs*4; 15:90878813-90878814	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.890_891insC; p.R298fs*4; 15:90878813-90878814	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.501+1G>T; p.?; 15:90877025-90877025	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1766C>T; p.T589I; 15:90881014-90881014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.307C>T; p.R103*; 15:90876492-90876492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2356G>A; p.A786T; 15:90881849-90881849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1269_1270delAT; p.Y424fs*72; 15:90879877-90879878	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1923C>T; p.C641C; 15:90881416-90881416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1923C>T; p.C641C; 15:90881416-90881416	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.870C>A; p.V290V; 15:90878793-90878793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2053T>C; p.S685P; 15:90881546-90881546	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2053T>C; p.S685P; 15:90881546-90881546	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2053T>C; p.S685P; 15:90881546-90881546	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1956G>C; p.Q652H; 15:90881449-90881449	breast	carcinoma	Substitution - Missense
c.2333A>T; p.D778V; 15:90881826-90881826	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2030G>A; p.R677Q; 15:90881523-90881523	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2055C>T; p.S685S; 15:90881548-90881548	skin	malignant_melanoma	Substitution - coding silent
c.1872T>C; p.D624D; 15:90881365-90881365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2342delG; p.G782fs*>13; 15:90881835-90881835	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.611C>T; p.A204V; 15:90877559-90877559	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2379C>A; p.A793A; 15:90881872-90881872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2093T>G; p.V698G; 15:90881586-90881586	skin	malignant_melanoma	Substitution - Missense
c.1849G>T; p.G617W; 15:90881342-90881342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2345delG; p.G782fs*>13; 15:90881838-90881838	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2199C>T; p.F733F; 15:90881692-90881692	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.690G>T; p.E230D; 15:90878154-90878154	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.110G>A; p.R37H; 15:90875850-90875850	thyroid	other; neoplasm	Substitution - Missense
c.2345delG; p.G782fs*>13; 15:90881838-90881838	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1484A>G; p.Y495C; 15:90880201-90880201	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1083G>A; p.T361T; 15:90879473-90879473	breast	carcinoma	Substitution - coding silent
c.1083G>A; p.T361T; 15:90879473-90879473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.851G>C; p.G284A; 15:90878774-90878774	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.963G>T; p.T321T; 15:90878886-90878886	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1125C>T; p.A375A; 15:90879515-90879515	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1722C>G; p.A574A; 15:90880970-90880970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.826C>T; p.R276C; 15:90878290-90878290	skin	malignant_melanoma	Substitution - Missense
c.1568A>T; p.Y523F; 15:90880702-90880702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.276+2T>G; p.?; 15:90876355-90876355	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.389G>T; p.R130L; 15:90876912-90876912	skin	malignant_melanoma	Substitution - Missense
c.673C>T; p.R225C; 15:90878137-90878137	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1896C>T; p.D632D; 15:90881389-90881389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.673C>T; p.R225C; 15:90878137-90878137	liver	carcinoma	Substitution - Missense
c.1896C>T; p.D632D; 15:90881389-90881389	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1757G>A; p.G586D; 15:90881005-90881005	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.219G>A; p.T73T; 15:90876296-90876296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1321T>G; p.W441G; 15:90879929-90879929	prostate	carcinoma	Substitution - Missense
c.324C>T; p.D108D; 15:90876509-90876509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.324C>T; p.D108D; 15:90876509-90876509	breast	carcinoma	Substitution - coding silent
c.324C>T; p.D108D; 15:90876509-90876509	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.320G>T; p.R107L; 15:90876505-90876505	skin	malignant_melanoma	Substitution - Missense
c.596C>G; p.A199G; 15:90877544-90877544	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1447C>G; p.R483G; 15:90880164-90880164	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1924G>A; p.A642T; 15:90881417-90881417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.802C>T; p.R268C; 15:90878266-90878266	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.667+1G>T; p.?; 15:90877616-90877616	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Unknown
c.1392G>T; p.R464R; 15:90880109-90880109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392G>T; p.R464R; 15:90880109-90880109	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.885C>T; p.N295N; 15:90878808-90878808	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2335G>A; p.E779K; 15:90881828-90881828	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2335G>A; p.E779K; 15:90881828-90881828	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1958G>A; p.G653E; 15:90881451-90881451	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.564G>T; p.Q188H; 15:90877197-90877197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1744C>T; p.P582S; 15:90880992-90880992	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.178-1G>T; p.?; 15:90876254-90876254	lung	carcinoma; small_cell_carcinoma	Unknown
c.2234G>T; p.R745L; 15:90881727-90881727	liver	carcinoma	Substitution - Missense
c.2234G>T; p.R745L; 15:90881727-90881727	liver	carcinoma	Substitution - Missense
c.1955A>G; p.Q652R; 15:90881448-90881448	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1402C>T; p.R468W; 15:90880119-90880119	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2187C>T; p.F729F; 15:90881680-90881680	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2187C>T; p.F729F; 15:90881680-90881680	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2187C>T; p.F729F; 15:90881680-90881680	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1473C>T; p.L491L; 15:90880190-90880190	pancreas	carcinoma	Substitution - coding silent
c.1473C>T; p.L491L; 15:90880190-90880190	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.1493G>A; p.R498H; 15:90880210-90880210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1410C>T; p.T470T; 15:90880127-90880127	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1925delC; p.C644fs*13; 15:90881418-90881418	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2175C>T; p.I725I; 15:90881668-90881668	skin	malignant_melanoma	Substitution - coding silent
c.2150_2175del26; p.V717fs*18; 15:90881643-90881668	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2175C>T; p.I725I; 15:90881668-90881668	skin	malignant_melanoma	Substitution - coding silent
c.2175C>T; p.I725I; 15:90881668-90881668	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.706G>T; p.E236*; 15:90878170-90878170	thyroid	other; neoplasm	Substitution - Nonsense
c.1356C>T; p.I452I; 15:90879964-90879964	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.356C>A; p.P119H; 15:90876541-90876541	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.356C>A; p.P119H; 15:90876541-90876541	breast	carcinoma	Substitution - Missense
c.747C>G; p.I249M; 15:90878211-90878211	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.93C>T; p.T31T; 15:90875833-90875833	skin	malignant_melanoma	Substitution - coding silent
c.1661C>T; p.T554I; 15:90880795-90880795	skin	malignant_melanoma	Substitution - Missense
c.2141C>G; p.P714R; 15:90881634-90881634	skin	malignant_melanoma	Substitution - Missense
c.362A>G; p.Q121R; 15:90876547-90876547	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1411G>A; p.V471M; 15:90880128-90880128	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1283delT; p.L429fs*43; 15:90879891-90879891	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1028G>A; p.S343N; 15:90878951-90878951	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.435C>T; p.H145H; 15:90876958-90876958	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1720G>A; p.A574T; 15:90880968-90880968	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1184A>T; p.H395L; 15:90879700-90879700	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2263G>T; p.G755C; 15:90881756-90881756	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.807C>T; p.L269L; 15:90878271-90878271	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.975C>T; p.N325N; 15:90878898-90878898	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.807C>T; p.L269L; 15:90878271-90878271	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.396G>A; p.L132L; 15:90876919-90876919	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.975C>T; p.N325N; 15:90878898-90878898	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.345C>T; p.D115D; 15:90876530-90876530	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.892C>T; p.R298W; 15:90878815-90878815	stomach	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database