Entrez Gene

Basic Information
Gene ID	6599
Name	SMARCC1
Synonymous	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1;SMARCC1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
Definition	BRG1-associated factor 155\|SWI/SNF complex 155 kDa subunit\|SWI/SNF complex subunit SMARCC1\|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1\|chromatin remodeling complex BAF155 subunit\|mammalian chromatin remode
Position	3p21.31
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2415T>A; p.D805E; 3:47636098-47636098	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2090G>A; p.S697N; 3:47662402-47662402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1657A>G; p.T553A; 3:47676697-47676697	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.250C>T; p.L84F; 3:47772882-47772882	skin	malignant_melanoma	Substitution - Missense
c.2472G>A; p.V824V; 3:47636041-47636041	pancreas	carcinoma	Substitution - coding silent
c.325T>C; p.F109L; 3:47745984-47745984	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2518G>T; p.E840*; 3:47635318-47635318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2518G>T; p.E840*; 3:47635318-47635318	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1696C>A; p.L566I; 3:47676658-47676658	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1075A>G; p.K359E; 3:47701368-47701368	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.732C>T; p.V244V; 3:47714475-47714475	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3213C>T; p.N1071N; 3:47590668-47590668	prostate	carcinoma	Substitution - coding silent
c.1205G>T; p.G402V; 3:47693261-47693261	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2669G>C; p.R890T; 3:47622319-47622319	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1310T>G; p.L437R; 3:47686124-47686124	skin	malignant_melanoma	Substitution - Missense
c.3181T>G; p.L1061V; 3:47590700-47590700	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.788G>A; p.W263*; 3:47714419-47714419	skin	malignant_melanoma	Substitution - Nonsense
c.2490A>G; p.S830S; 3:47636023-47636023	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3128C>T; p.P1043L; 3:47590753-47590753	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3274C>T; p.P1092S; 3:47588253-47588253	skin	malignant_melanoma	Substitution - Missense
c.1198G>C; p.V400L; 3:47693268-47693268	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3010C>T; p.H1004Y; 3:47610099-47610099	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1840-3T>C; p.?; 3:47670720-47670720	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.132G>C; p.E44D; 3:47781666-47781666	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2759T>G; p.I920S; 3:47622229-47622229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2072C>T; p.S691L; 3:47662420-47662420	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.690A>G; p.L230L; 3:47720692-47720692	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1364C>T; p.A455V; 3:47686070-47686070	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1660C>T; p.P554S; 3:47676694-47676694	skin	malignant_melanoma	Substitution - Missense
c.3131C>T; p.S1044F; 3:47590750-47590750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2860G>A; p.A954T; 3:47610249-47610249	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2860G>A; p.A954T; 3:47610249-47610249	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1957A>G; p.T653A; 3:47662535-47662535	central_nervous_system; brain	glioma	Substitution - Missense
c.2424A>C; p.Q808H; 3:47636089-47636089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2845T>C; p.Y949H; 3:47610264-47610264	pancreas	carcinoma	Substitution - Missense
c.1497T>C; p.R499R; 3:47678272-47678272	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3252A>G; p.P1084P; 3:47588275-47588275	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1894C>G; p.L632V; 3:47670663-47670663	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.402-3delT; p.?; 3:47738113-47738113	pancreas	carcinoma; acinar_carcinoma	Unknown
c.760G>A; p.E254K; 3:47714447-47714447	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2356G>C; p.D786H; 3:47638745-47638745	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.433A>T; p.M145L; 3:47738079-47738079	kidney	other; neoplasm	Substitution - Missense
c.2242T>C; p.S748P; 3:47661372-47661372	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.443A>T; p.N148I; 3:47738069-47738069	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2444delA; p.N815fs*10; 3:47636069-47636069	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1003A>G; p.T335A; 3:47706446-47706446	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1535G>A; p.R512Q; 3:47678234-47678234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.781A>C; p.K261Q; 3:47714426-47714426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2121C>T; p.D707D; 3:47662371-47662371	skin	malignant_melanoma	Substitution - coding silent
c.2051A>G; p.Q684R; 3:47662441-47662441	pancreas	carcinoma	Substitution - Missense
c.2051A>G; p.Q684R; 3:47662441-47662441	pancreas	carcinoma	Substitution - Missense
c.2051A>G; p.Q684R; 3:47662441-47662441	pancreas	carcinoma	Substitution - Missense
c.2168C>T; p.S723F; 3:47661446-47661446	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2120A>T; p.D707V; 3:47662372-47662372	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.135C>T; p.S45S; 3:47781663-47781663	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.498delC; p.R167fs*12; 3:47736112-47736112	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1165+1G>T; p.?; 3:47701277-47701277	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1180G>T; p.D394Y; 3:47693286-47693286	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2040T>G; p.P680P; 3:47662452-47662452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1197T>C; p.P399P; 3:47693269-47693269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2016G>T; p.E672D; 3:47662476-47662476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3043+4A>T; p.?; 3:47610062-47610062	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2541A>G; p.E847E; 3:47635295-47635295	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2175C>T; p.V725V; 3:47661439-47661439	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.2682C>T; p.S894S; 3:47622306-47622306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2175C>T; p.V725V; 3:47661439-47661439	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2530A>G; p.T844A; 3:47635306-47635306	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2023G>A; p.D675N; 3:47662469-47662469	breast	carcinoma	Substitution - Missense
c.994C>T; p.P332S; 3:47706455-47706455	skin	malignant_melanoma	Substitution - Missense
c.1545G>C; p.L515F; 3:47678224-47678224	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1708C>T; p.H570Y; 3:47676646-47676646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1845A>G; p.K615K; 3:47670712-47670712	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1845A>G; p.K615K; 3:47670712-47670712	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1845A>G; p.K615K; 3:47670712-47670712	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1714C>T; p.R572*; 3:47676640-47676640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1496G>A; p.R499H; 3:47678273-47678273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2990C>T; p.P997L; 3:47610119-47610119	skin	malignant_melanoma	Substitution - Missense
c.2817C>T; p.R939R; 3:47610292-47610292	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2317C>G; p.L773V; 3:47661297-47661297	skin	malignant_melanoma	Substitution - Missense
c.2441_2444delAAAA; p.K814fs*10; 3:47636069-47636072	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1689delC; p.S564fs*20; 3:47676665-47676665	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.440G>A; p.R147H; 3:47738072-47738072	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2857C>T; p.R953*; 3:47610252-47610252	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1687C>T; p.P563S; 3:47676667-47676667	liver	carcinoma	Substitution - Missense
c.2332G>C; p.E778Q; 3:47638769-47638769	breast	carcinoma	Substitution - Missense
c.1687C>T; p.P563S; 3:47676667-47676667	liver	carcinoma	Substitution - Missense
c.1348A>G; p.I450V; 3:47686086-47686086	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.539T>C; p.L180S; 3:47736071-47736071	skin	malignant_melanoma	Substitution - Missense
c.2171G>A; p.R724Q; 3:47661443-47661443	breast	carcinoma	Substitution - Missense
c.2674A>G; p.I892V; 3:47622314-47622314	kidney	other; neoplasm	Substitution - Missense
c.1495C>T; p.R499C; 3:47678274-47678274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1495C>T; p.R499C; 3:47678274-47678274	skin	malignant_melanoma	Substitution - Missense
c.1495C>T; p.R499C; 3:47678274-47678274	skin	malignant_melanoma	Substitution - Missense
c.1495C>T; p.R499C; 3:47678274-47678274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1495C>T; p.R499C; 3:47678274-47678274	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2476G>A; p.E826K; 3:47636037-47636037	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2476G>A; p.E826K; 3:47636037-47636037	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1928A>T; p.N643I; 3:47662564-47662564	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1134C>T; p.P378P; 3:47701309-47701309	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1928A>T; p.N643I; 3:47662564-47662564	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1928A>T; p.N643I; 3:47662564-47662564	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2531C>T; p.T844I; 3:47635305-47635305	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2607C>G; p.A869A; 3:47635229-47635229	breast	carcinoma	Substitution - coding silent
c.1554T>C; p.D518D; 3:47678215-47678215	breast	carcinoma	Substitution - coding silent
c.2211T>C; p.H737H; 3:47661403-47661403	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.879T>C; p.P293P; 3:47710722-47710722	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1929C>T; p.N643N; 3:47662563-47662563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1250C>T; p.T417I; 3:47689400-47689400	skin	malignant_melanoma	Substitution - Missense
c.3003G>C; p.L1001L; 3:47610106-47610106	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1298G>C; p.R433P; 3:47686136-47686136	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3003G>C; p.L1001L; 3:47610106-47610106	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1679C>T; p.A560V; 3:47676675-47676675	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2426A>C; p.D809A; 3:47636087-47636087	thyroid	other; neoplasm	Substitution - Missense
c.1276C>T; p.P426S; 3:47686158-47686158	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1276C>T; p.P426S; 3:47686158-47686158	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.862G>A; p.D288N; 3:47710739-47710739	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1869G>A; p.W623*; 3:47670688-47670688	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2021C>T; p.S674L; 3:47662471-47662471	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3305C>T; p.S1102L; 3:47588222-47588222	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2506G>A; p.E836K; 3:47635330-47635330	breast	carcinoma	Substitution - Missense
c.2059_2060CC>TT; p.P687F; 3:47662432-47662433	skin	malignant_melanoma	Substitution - Missense
c.1916A>G; p.K639R; 3:47662576-47662576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1472G>A; p.R491Q; 3:47678297-47678297	central_nervous_system; brain	glioma	Substitution - Missense
c.3077G>C; p.G1026A; 3:47590804-47590804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1472G>A; p.R491Q; 3:47678297-47678297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1472G>A; p.R491Q; 3:47678297-47678297	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1893C>T; p.L631L; 3:47670664-47670664	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2877A>G; p.E959E; 3:47610232-47610232	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1141G>A; p.E381K; 3:47701302-47701302	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1199T>G; p.V400G; 3:47693267-47693267	skin	malignant_melanoma	Substitution - Missense
c.852T>G; p.D284E; 3:47710749-47710749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1108G>T; p.D370Y; 3:47701335-47701335	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1176G>T; p.K392N; 3:47693290-47693290	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1176G>T; p.K392N; 3:47693290-47693290	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2177G>T; p.R726L; 3:47661437-47661437	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1926G>C; p.W642C; 3:47662566-47662566	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3140G>A; p.G1047D; 3:47590741-47590741	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.828C>T; p.F276F; 3:47710773-47710773	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.850G>A; p.D284N; 3:47710751-47710751	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3302C>A; p.A1101D; 3:47588225-47588225	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.2889T>C; p.H963H; 3:47610220-47610220	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1371G>T; p.W457C; 3:47686063-47686063	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1978C>T; p.H660Y; 3:47662514-47662514	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.772A>G; p.I258V; 3:47714435-47714435	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3043G>A; p.G1015S; 3:47610066-47610066	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1928A>G; p.N643S; 3:47662564-47662564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3313C>T; p.P1105S; 3:47588214-47588214	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1928A>G; p.N643S; 3:47662564-47662564	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3189C>T; p.P1063P; 3:47590692-47590692	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3189C>T; p.P1063P; 3:47590692-47590692	skin	malignant_melanoma	Substitution - coding silent
c.2551G>A; p.D851N; 3:47635285-47635285	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1367C>G; p.S456*; 3:47686067-47686067	liver	carcinoma	Substitution - Nonsense
c.1586delT; p.L529fs*1; 3:47676768-47676768	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.439C>G; p.R147G; 3:47738073-47738073	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1805G>A; p.R602H; 3:47675509-47675509	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1805G>A; p.R602H; 3:47675509-47675509	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2425G>T; p.D809Y; 3:47636088-47636088	thyroid	other; neoplasm	Substitution - Missense
c.1847G>T; p.G616V; 3:47670710-47670710	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1468T>C; p.Y490H; 3:47678301-47678301	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2883G>A; p.Q961Q; 3:47610226-47610226	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2301C>G; p.P767P; 3:47661313-47661313	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1705C>A; p.L569M; 3:47676649-47676649	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1954C>T; p.R652C; 3:47662538-47662538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1561G>T; p.A521S; 3:47678208-47678208	breast	carcinoma	Substitution - Missense
c.1256G>A; p.G419E; 3:47689394-47689394	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1243A>G; p.T415A; 3:47689407-47689407	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1385+4A>T; p.?; 3:47686045-47686045	liver	carcinoma	Unknown
c.569G>A; p.R190Q; 3:47736041-47736041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.823_824delAT; p.I275fs*3; 3:47710777-47710778	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2840_2881del42; p.L947_Q960del14; 3:47610228-47610269	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1385+4A>T; p.?; 3:47686045-47686045	liver	carcinoma	Unknown
c.1715G>A; p.R572Q; 3:47676639-47676639	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.890G>A; p.R297H; 3:47710711-47710711	stomach	adenocarcinoma	Substitution - Missense
c.3147C>T; p.T1049T; 3:47590734-47590734	skin; neck	malignant_melanoma	Substitution - coding silent

COSMIC somatic mutation [Top]