Entrez Gene

Basic Information
Gene ID	64750
Name	SMURF2
Synonymous	SMAD specific E3 ubiquitin protein ligase 2;SMURF2;SMAD specific E3 ubiquitin protein ligase 2
Definition	E3 ubiquitin ligase SMURF2\|E3 ubiquitin-protein ligase SMURF2\|SMAD ubiquitination regulatory factor 2\|SMAD-specific E3 ubiquitin-protein ligase 2\|hSMURF2
Position	17q22-q23
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.104C>T; p.P35L; 17:64598478-64598478	skin	malignant_melanoma	Substitution - Missense
c.770A>G; p.Y257C; 17:64580791-64580791	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.779G>T; p.R260M; 17:64578570-64578570	ovary	carcinoma	Substitution - Missense
c.1418C>T; p.S473F; 17:64557621-64557621	skin	malignant_melanoma	Substitution - Missense
c.560G>A; p.R187H; 17:64583470-64583470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1371C>T; p.F457F; 17:64557668-64557668	skin	malignant_melanoma	Substitution - coding silent
c.560G>A; p.R187H; 17:64583470-64583470	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2113G>A; p.A705T; 17:64546297-64546297	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1776A>T; p.R592R; 17:64551677-64551677	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1519C>G; p.P507A; 17:64555911-64555911	skin	malignant_melanoma	Substitution - Missense
c.631C>G; p.P211A; 17:64580930-64580930	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1545G>A; p.K515K; 17:64555885-64555885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.994G>T; p.A332S; 17:64571820-64571820	prostate	carcinoma	Substitution - Missense
c.363G>A; p.G121G; 17:64591121-64591121	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1109G>A; p.R370Q; 17:64562874-64562874	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.176C>T; p.P59L; 17:64598406-64598406	skin	malignant_melanoma	Substitution - Missense
c.1850T>C; p.F617S; 17:64551603-64551603	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1665A>G; p.A555A; 17:64554939-64554939	oesophagus	carcinoma	Substitution - coding silent
c.1813T>A; p.F605I; 17:64551640-64551640	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2014C>G; p.L672V; 17:64547657-64547657	urinary_tract; bladder	carcinoma	Substitution - Missense
c.293G>A; p.R98H; 17:64593481-64593481	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1279C>T; p.R427C; 17:64561537-64561537	skin	malignant_melanoma	Substitution - Missense
c.1585C>T; p.L529F; 17:64555845-64555845	skin; shoulder	malignant_melanoma	Substitution - Missense
c.1279C>T; p.R427C; 17:64561537-64561537	skin	malignant_melanoma	Substitution - Missense
c.1279C>T; p.R427C; 17:64561537-64561537	skin	malignant_melanoma	Substitution - Missense
c.675T>G; p.D225E; 17:64580886-64580886	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2213C>T; p.A738V; 17:64545882-64545882	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.261G>A; p.K87K; 17:64593513-64593513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.520C>T; p.Q174*; 17:64583510-64583510	skin	malignant_melanoma	Substitution - Nonsense
c.1961A>T; p.K654I; 17:64547710-64547710	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1104C>T; p.Y368Y; 17:64562879-64562879	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2109T>A; p.I703I; 17:64546301-64546301	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1547C>T; p.S516L; 17:64555883-64555883	urinary_tract; bladder	carcinoma	Substitution - Missense
c.508T>C; p.S170P; 17:64583522-64583522	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1611T>C; p.L537L; 17:64554993-64554993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1775G>T; p.R592L; 17:64551678-64551678	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.548C>T; p.T183M; 17:64583482-64583482	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2087G>A; p.R696K; 17:64546323-64546323	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1356A>T; p.P452P; 17:64557683-64557683	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.898C>T; p.P300S; 17:64571916-64571916	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.418G>A; p.D140N; 17:64586153-64586153	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2063C>G; p.A688G; 17:64547608-64547608	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.132T>C; p.S44S; 17:64598450-64598450	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.503_504CC>TT; p.T168I; 17:64583526-64583527	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1412_1413delCT; p.P471fs*5; 17:64557626-64557627	breast	carcinoma	Deletion - Frameshift
c.2053G>A; p.G685S; 17:64547618-64547618	skin; trunk	malignant_melanoma	Substitution - Missense
c.1363G>A; p.G455S; 17:64557676-64557676	liver	carcinoma	Substitution - Missense
c.1363G>A; p.G455S; 17:64557676-64557676	liver	carcinoma	Substitution - Missense
c.743A>G; p.H248R; 17:64580818-64580818	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.511G>A; p.G171R; 17:64583519-64583519	skin	malignant_melanoma	Substitution - Missense
c.1585C>G; p.L529V; 17:64555845-64555845	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.778A>G; p.R260G; 17:64578571-64578571	central_nervous_system; brain	glioma	Substitution - Missense
c.91+1G>A; p.?; 17:64606601-64606601	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.515G>T; p.R172I; 17:64583515-64583515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>T; p.R172I; 17:64583515-64583515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2147G>A; p.C716Y; 17:64546263-64546263	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1582G>A; p.D528N; 17:64555848-64555848	meninges	meningioma; secretory	Substitution - Missense
c.1502_1505delATGG; p.D501fs*23; 17:64555925-64555928	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.785C>T; p.T262M; 17:64578564-64578564	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.785C>T; p.T262M; 17:64578564-64578564	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1678A>G; p.I560V; 17:64554926-64554926	breast	carcinoma	Substitution - Missense
c.1568A>T; p.E523V; 17:64555862-64555862	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.524A>G; p.Y175C; 17:64583506-64583506	liver	carcinoma	Substitution - Missense
c.1108C>G; p.R370G; 17:64562875-64562875	breast	carcinoma	Substitution - Missense
c.524A>G; p.Y175C; 17:64583506-64583506	liver	carcinoma	Substitution - Missense
c.68delA; p.N23fs*3; 17:64606625-64606625	skin; hip	malignant_melanoma	Deletion - Frameshift
c.1716T>C; p.P572P; 17:64554888-64554888	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.458G>A; p.R153H; 17:64586113-64586113	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2167C>T; p.P723S; 17:64545928-64545928	thyroid	carcinoma	Substitution - Missense
c.2179_2180insA; p.S727fs*3; 17:64545915-64545916	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.451T>C; p.C151R; 17:64586120-64586120	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1774C>T; p.R592*; 17:64551679-64551679	lung	carcinoma; non_small_cell_carcinoma	Substitution - Nonsense
c.441A>G; p.Q147Q; 17:64586130-64586130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1175A>G; p.H392R; 17:64562808-64562808	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1776A>C; p.R592R; 17:64551677-64551677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2067G>A; p.L689L; 17:64547604-64547604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.875A>G; p.N292S; 17:64571939-64571939	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1103A>G; p.Y368C; 17:64562880-64562880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.234T>C; p.S78S; 17:64593540-64593540	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1429C>T; p.P477S; 17:64557610-64557610	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1429C>T; p.P477S; 17:64557610-64557610	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.228G>T; p.T76T; 17:64593546-64593546	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.89_90insT; p.R31fs*4; 17:64606603-64606604	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1203G>T; p.E401D; 17:64562780-64562780	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1771_1802del32; p.L591fs*5; 17:64551651-64551682	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1222C>T; p.R408*; 17:64561594-64561594	skin; shoulder	malignant_melanoma	Substitution - Nonsense
c.871A>G; p.I291V; 17:64571943-64571943	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.837G>A; p.W279*; 17:64578512-64578512	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.808T>A; p.L270I; 17:64578541-64578541	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.189G>A; p.Q63Q; 17:64598393-64598393	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2184_2185insAT; p.E729fs*9; 17:64545910-64545911	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.512G>A; p.G171E; 17:64583518-64583518	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.282C>T; p.L94L; 17:64593492-64593492	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.892C>T; p.P298S; 17:64571922-64571922	skin	malignant_melanoma	Substitution - Missense
c.298C>T; p.L100F; 17:64593476-64593476	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.53-5delT; p.?; 17:64606645-64606645	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.317G>A; p.R106H; 17:64593457-64593457	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1914G>A; p.K638K; 17:64547757-64547757	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1959C>G; p.V653V; 17:64547712-64547712	ovary	other; neoplasm	Substitution - coding silent
c.1819G>A; p.E607K; 17:64551634-64551634	breast	carcinoma	Substitution - Missense
c.2110G>A; p.D704N; 17:64546300-64546300	breast	carcinoma	Substitution - Missense
c.2156G>A; p.R719Q; 17:64545939-64545939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1016+2T>A; p.?; 17:64571796-64571796	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.252G>A; p.K84K; 17:64593522-64593522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.271G>C; p.A91P; 17:64593503-64593503	liver	carcinoma	Substitution - Missense
c.1430C>T; p.P477L; 17:64557609-64557609	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1776A>G; p.R592R; 17:64551677-64551677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1776A>G; p.R592R; 17:64551677-64551677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1776A>G; p.R592R; 17:64551677-64551677	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1423G>T; p.V475F; 17:64557616-64557616	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1056G>T; p.V352V; 17:64562927-64562927	pancreas	carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]