| Gene ID | 267 |
| Symbol | AMFR |
| Synonymous | GP78|RNF45 |
| Full name | autocrine motility factor receptor, E3 ubiquitin protein ligase |
| Gene description | E3 ubiquitin-protein ligase AMFR|RING finger protein 45 |
| Cytoband | 16q21 |
| Gene type | protein-coding |
| Synonymous | MIM:603243; HGNC:HGNC:463; Ensembl:ENSG00000159461; HPRD:09130; Vega:OTTHUMG00000133239 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1517G>A; p.R506Q; 16:56367526-56367526 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1258C>A; p.H420N; 16:56389203-56389203 |
skin | malignant_melanoma | Substitution - Missense |
c.1490G>A; p.R497Q; 16:56369218-56369218 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1183C>T; p.Q395*; 16:56389278-56389278 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1850C>T; p.A617V; 16:56362991-56362991 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1228G>A; p.E410K; 16:56389233-56389233 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1172G>T; p.R391M; 16:56389289-56389289 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.38G>T; p.S13I; 16:56425290-56425290 |
thyroid | other; neoplasm | Substitution - Missense |
c.1599+4A>G; p.?; 16:56367440-56367440 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.1623C>G; p.L541L; 16:56364082-56364082 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.895C>T; p.R299C; 16:56403064-56403064 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.764C>T; p.T255M; 16:56404985-56404985 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.764C>T; p.T255M; 16:56404985-56404985 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1508C>A; p.P503H; 16:56369200-56369200 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1133G>A; p.C378Y; 16:56389328-56389328 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.348+1G>C; p.?; 16:56414251-56414251 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.525G>A; p.S175S; 16:56408105-56408105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1273G>A; p.D425N; 16:56389188-56389188 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.328C>G; p.L110V; 16:56414272-56414272 |
pancreas | carcinoma | Substitution - Missense |
c.328C>G; p.L110V; 16:56414272-56414272 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.328C>G; p.L110V; 16:56414272-56414272 |
pancreas | carcinoma | Substitution - Missense |
c.328C>G; p.L110V; 16:56414272-56414272 |
pancreas | carcinoma | Substitution - Missense |
c.1378A>C; p.M460L; 16:56385921-56385921 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.954G>A; p.V318V; 16:56403005-56403005 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.944A>G; p.Y315C; 16:56403015-56403015 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.944A>G; p.Y315C; 16:56403015-56403015 |
liver | carcinoma | Substitution - Missense |
c.944A>G; p.Y315C; 16:56403015-56403015 |
liver | carcinoma | Substitution - Missense |
c.944A>G; p.Y315C; 16:56403015-56403015 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.713T>C; p.V238A; 16:56405036-56405036 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1097G>C; p.R366P; 16:56389364-56389364 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1097G>C; p.R366P; 16:56389364-56389364 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.524C>T; p.S175L; 16:56408106-56408106 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1787G>A; p.R596H; 16:56363054-56363054 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1259A>C; p.H420P; 16:56389202-56389202 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1710C>T; p.R570R; 16:56363995-56363995 |
large_intestine; rectum | NS | Substitution - coding silent |
c.1080C>T; p.F360F; 16:56401738-56401738 |
skin | malignant_melanoma | Substitution - coding silent |
c.1695G>T; p.E565D; 16:56364010-56364010 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1923G>T; p.Q641H; 16:56362918-56362918 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.923G>A; p.R308Q; 16:56403036-56403036 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1780C>T; p.R594C; 16:56363925-56363925 |
skin | malignant_melanoma | Substitution - Missense |
c.981A>C; p.A327A; 16:56401837-56401837 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.323G>C; p.G108A; 16:56414277-56414277 |
skin | malignant_melanoma | Substitution - Missense |
c.1863C>T; p.P621P; 16:56362978-56362978 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.358G>T; p.D120Y; 16:56409579-56409579 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010A>G; p.N337S; 16:56401808-56401808 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1419C>A; p.Y473*; 16:56369289-56369289 |
liver | carcinoma | Substitution - Nonsense |
c.1419C>A; p.Y473*; 16:56369289-56369289 |
liver | carcinoma | Substitution - Nonsense |
c.1397A>G; p.E466G; 16:56369311-56369311 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1771C>T; p.Q591*; 16:56363934-56363934 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1669G>T; p.E557*; 16:56364036-56364036 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1846G>T; p.G616C; 16:56362995-56362995 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.256-1G>T; p.?; 16:56414345-56414345 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.949C>T; p.R317C; 16:56403010-56403010 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333A>G; p.N445D; 16:56385966-56385966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1259A>G; p.H420R; 16:56389202-56389202 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.798C>T; p.L266L; 16:56404951-56404951 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.928C>T; p.R310C; 16:56403031-56403031 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.928C>T; p.R310C; 16:56403031-56403031 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.928C>T; p.R310C; 16:56403031-56403031 |
skin | malignant_melanoma | Substitution - Missense |
c.1517G>T; p.R506L; 16:56367526-56367526 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1052C>T; p.A351V; 16:56401766-56401766 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1876C>T; p.R626*; 16:56362965-56362965 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1201G>A; p.E401K; 16:56389260-56389260 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1739G>A; p.R580H; 16:56363966-56363966 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1166G>A; p.R389H; 16:56389295-56389295 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1271T>G; p.F424C; 16:56389190-56389190 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408C>G; p.Q470E; 16:56369300-56369300 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.866T>C; p.M289T; 16:56403093-56403093 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1405C>T; p.P469S; 16:56369303-56369303 |
skin | malignant_melanoma | Substitution - Missense |
c.1594G>A; p.A532T; 16:56367449-56367449 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1602C>T; p.T534T; 16:56364103-56364103 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1814A>T; p.D605V; 16:56363027-56363027 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.939G>T; p.K313N; 16:56403020-56403020 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1700G>A; p.R567H; 16:56364005-56364005 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.650C>T; p.A217V; 16:56407980-56407980 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.326C>G; p.P109R; 16:56414274-56414274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1857T>C; p.S619S; 16:56362984-56362984 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1055G>A; p.R352Q; 16:56401763-56401763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1380+1G>A; p.?; 16:56385918-56385918 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1561C>T; p.P521S; 16:56367482-56367482 |
skin | malignant_melanoma | Substitution - Missense |
c.958G>T; p.G320*; 16:56403001-56403001 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1060C>G; p.L354V; 16:56401758-56401758 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1860C>T; p.D620D; 16:56362981-56362981 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.804C>T; p.L268L; 16:56404945-56404945 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1156G>A; p.D386N; 16:56389305-56389305 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1692C>T; p.F564F; 16:56364013-56364013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |