Entrez Gene

Basic Information
Gene ID	55669
Name	MFN1
Synonymous	mitofusin 1;MFN1;mitofusin 1
Definition	fzo homolog\|mitochondrial transmembrane GTPase FZO-2\|mitochondrial transmembrane GTPase Fzo-1\|mitofusin-1\|putative transmembrane GTPase\|transmembrane GTPase MFN1
Position	3q26.33
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1721A>T; p.N574I; 3:179385627-179385627	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1721A>T; p.N574I; 3:179385627-179385627	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.872C>A; p.A291D; 3:179367557-179367557	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.625G>A; p.E209K; 3:179364385-179364385	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.771G>A; p.M257I; 3:179367456-179367456	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.646-3C>A; p.?; 3:179365115-179365115	lung	carcinoma; small_cell_carcinoma	Unknown
c.1735G>T; p.E579*; 3:179385641-179385641	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1859C>T; p.T620I; 3:179386476-179386476	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1310T>C; p.V437A; 3:179377429-179377429	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1354G>T; p.G452C; 3:179378365-179378365	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1398C>T; p.N466N; 3:179378409-179378409	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1398C>T; p.N466N; 3:179378409-179378409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.305C>T; p.P102L; 3:179358896-179358896	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.626A>G; p.E209G; 3:179364386-179364386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.626A>G; p.E209G; 3:179364386-179364386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.486G>A; p.W162*; 3:179362432-179362432	pleura	pulmonary_blastoma	Substitution - Nonsense
c.88A>G; p.T30A; 3:179348939-179348939	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1549C>T; p.Q517*; 3:179378701-179378701	skin	malignant_melanoma	Substitution - Nonsense
c.1845A>G; p.L615L; 3:179386462-179386462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.329A>G; p.N110S; 3:179358920-179358920	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.784C>T; p.H262Y; 3:179367469-179367469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2035C>T; p.R679C; 3:179390026-179390026	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.177A>T; p.G59G; 3:179351964-179351964	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1831G>T; p.G611C; 3:179386448-179386448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1865A>G; p.Y622C; 3:179386482-179386482	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1451T>C; p.L484P; 3:179378603-179378603	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1243G>C; p.D415H; 3:179377362-179377362	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1576C>A; p.L526M; 3:179378728-179378728	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.17C>G; p.S6C; 3:179348868-179348868	breast	carcinoma	Substitution - Missense
c.902A>T; p.E301V; 3:179367587-179367587	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1622C>T; p.A541V; 3:179378774-179378774	pancreas	carcinoma	Substitution - Missense
c.1767G>A; p.A589A; 3:179385673-179385673	pancreas	carcinoma	Substitution - coding silent
c.1378C>T; p.R460*; 3:179378389-179378389	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1712C>T; p.T571M; 3:179385618-179385618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1596A>G; p.V532V; 3:179378748-179378748	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.969C>G; p.I323M; 3:179368097-179368097	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1608G>A; p.L536L; 3:179378760-179378760	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1936T>C; p.F646L; 3:179386553-179386553	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2115G>A; p.L705L; 3:179390106-179390106	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.51G>A; p.A17A; 3:179348902-179348902	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.40G>T; p.A14S; 3:179348891-179348891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.899C>T; p.P300L; 3:179367584-179367584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1347A>G; p.I449M; 3:179378358-179378358	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1510A>T; p.S504C; 3:179378662-179378662	liver	carcinoma	Substitution - Missense
c.94G>C; p.G32R; 3:179348945-179348945	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1230A>G; p.S410S; 3:179377349-179377349	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.195C>T; p.S65S; 3:179351982-179351982	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1011C>T; p.F337F; 3:179375255-179375255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1011C>T; p.F337F; 3:179375255-179375255	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1011C>T; p.F337F; 3:179375255-179375255	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2200C>A; p.L734I; 3:179392033-179392033	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.476G>T; p.R159L; 3:179362422-179362422	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.880_881insA; p.A296fs*13; 3:179367565-179367566	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1567C>T; p.P523S; 3:179378719-179378719	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1567C>T; p.P523S; 3:179378719-179378719	skin	malignant_melanoma	Substitution - Missense
c.456G>A; p.L152L; 3:179362402-179362402	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.663C>G; p.H221Q; 3:179365135-179365135	central_nervous_system; brain	glioma; oligoastrocytoma	Substitution - Missense
c.1433-1G>A; p.?; 3:179378584-179378584	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.835C>A; p.R279S; 3:179367520-179367520	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.615C>T; p.V205V; 3:179364375-179364375	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.798G>T; p.E266D; 3:179367483-179367483	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.845T>C; p.F282S; 3:179367530-179367530	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.128C>T; p.P43L; 3:179351915-179351915	breast	carcinoma	Substitution - Missense
c.725C>G; p.S242C; 3:179365197-179365197	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1244A>G; p.D415G; 3:179377363-179377363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.411G>T; p.K137N; 3:179359002-179359002	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1983G>A; p.T661T; 3:179386600-179386600	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1244A>G; p.D415G; 3:179377363-179377363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1244A>G; p.D415G; 3:179377363-179377363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1333T>C; p.L445L; 3:179378344-179378344	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.103T>C; p.F35L; 3:179348954-179348954	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.104T>A; p.F35Y; 3:179348955-179348955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.104T>A; p.F35Y; 3:179348955-179348955	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.373C>T; p.L125F; 3:179358964-179358964	pancreas	carcinoma	Substitution - Missense
c.760A>T; p.R254*; 3:179367445-179367445	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.713G>A; p.R238H; 3:179365185-179365185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1198G>A; p.E400K; 3:179377142-179377142	large_intestine; colon	adenoma	Substitution - Missense
c.577G>C; p.D193H; 3:179364337-179364337	urinary_tract; bladder	carcinoma	Substitution - Missense
c.627A>G; p.E209E; 3:179364387-179364387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.627A>G; p.E209E; 3:179364387-179364387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.938G>C; p.R313T; 3:179368066-179368066	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1245T>C; p.D415D; 3:179377364-179377364	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.237_238insT; p.G82fs*18; 3:179352024-179352025	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.468T>C; p.C156C; 3:179362414-179362414	pancreas	carcinoma	Substitution - coding silent
c.35T>C; p.V12A; 3:179348886-179348886	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1951A>T; p.T651S; 3:179386568-179386568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2173G>C; p.E725Q; 3:179392006-179392006	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1229C>T; p.S410L; 3:179377348-179377348	skin	malignant_melanoma	Substitution - Missense
c.2147+1G>T; p.?; 3:179390139-179390139	breast	carcinoma	Unknown
c.1646C>A; p.S549*; 3:179378798-179378798	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.678G>T; p.R226R; 3:179365150-179365150	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1687C>T; p.P563S; 3:179385593-179385593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2141T>G; p.L714R; 3:179390132-179390132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1065G>A; p.M355I; 3:179375309-179375309	liver	carcinoma	Substitution - Missense
c.1065G>A; p.M355I; 3:179375309-179375309	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.841T>G; p.F281V; 3:179367526-179367526	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1350G>T; p.E450D; 3:179378361-179378361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.67G>A; p.D23N; 3:179348918-179348918	urinary_tract; bladder	carcinoma	Substitution - Missense
c.318C>T; p.G106G; 3:179358909-179358909	large_intestine; colon	NS	Substitution - coding silent
c.1086T>C; p.A362A; 3:179375330-179375330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1012G>A; p.E338K; 3:179375256-179375256	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.655delT; p.H221fs*3; 3:179365127-179365127	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1012G>A; p.E338K; 3:179375256-179375256	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.139C>T; p.R47*; 3:179351926-179351926	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.926G>T; p.G309V; 3:179368054-179368054	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.139C>T; p.R47*; 3:179351926-179351926	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.551T>G; p.V184G; 3:179364311-179364311	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.238delT; p.F81fs*28; 3:179352025-179352025	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.529G>A; p.V177I; 3:179362475-179362475	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.467G>T; p.C156F; 3:179362413-179362413	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>T; p.D53Y; 3:179351944-179351944	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>T; p.S357L; 3:179375314-179375314	prostate	carcinoma	Substitution - Missense
c.921T>G; p.A307A; 3:179368049-179368049	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.428C>T; p.A143V; 3:179362374-179362374	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1438T>G; p.L480V; 3:179378590-179378590	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1132G>C; p.D378H; 3:179377076-179377076	breast	carcinoma	Substitution - Missense
c.1488C>T; p.I496I; 3:179378640-179378640	skin	malignant_melanoma	Substitution - coding silent
c.559G>A; p.E187K; 3:179364319-179364319	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2181G>T; p.E727D; 3:179392014-179392014	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.235G>A; p.A79T; 3:179352022-179352022	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.235G>A; p.A79T; 3:179352022-179352022	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.356A>C; p.D119A; 3:179358947-179358947	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.472G>A; p.V158I; 3:179362418-179362418	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.140G>A; p.R47Q; 3:179351927-179351927	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense

COSMIC somatic mutation [Top]