Entrez Gene

Basic Information
Gene ID	9429
Name	ABCG2

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.703G>A; p.G235R; 4:88118247-88118247	skin	malignant_melanoma	Substitution - Missense
c.459G>A; p.T153T; 4:88131133-88131133	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.79G>T; p.D27Y; 4:88139917-88139917	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1356G>T; p.K452N; 4:88101241-88101241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1177C>A; p.Q393K; 4:88113320-88113320	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1177C>A; p.Q393K; 4:88113320-88113320	central_nervous_system; cerebellum	primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype	Substitution - Missense
c.532-5T>C; p.?; 4:88121797-88121797	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Unknown
c.1443G>A; p.M481I; 4:88099373-88099373	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.1155C>G; p.F385L; 4:88113342-88113342	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.891C>T; p.I297I; 4:88115009-88115009	skin	malignant_melanoma	Substitution - coding silent
c.603C>A; p.I201I; 4:88121721-88121721	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.843T>C; p.G281G; 4:88115057-88115057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1913T>C; p.V638A; 4:88092289-88092289	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.335C>T; p.P112L; 4:88131846-88131846	oesophagus	carcinoma	Substitution - Missense
c.1016C>T; p.S339F; 4:88113481-88113481	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.30C>T; p.I10I; 4:88139966-88139966	skin	malignant_melanoma	Substitution - coding silent
c.1333G>A; p.V445M; 4:88101264-88101264	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.785G>A; p.G262E; 4:88118165-88118165	skin	malignant_melanoma	Substitution - Missense
c.785G>A; p.G262E; 4:88118165-88118165	skin	malignant_melanoma	Substitution - Missense
c.1195-1G>A; p.?; 4:88107267-88107267	skin; extremity	malignant_melanoma	Unknown
c.338G>A; p.R113Q; 4:88131843-88131843	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1368-2A>T; p.?; 4:88099450-88099450	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.1302G>A; p.T434T; 4:88101295-88101295	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1320C>G; p.S440R; 4:88101277-88101277	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1613C>G; p.T538R; 4:88097487-88097487	liver	carcinoma	Substitution - Missense
c.1613C>G; p.T538R; 4:88097487-88097487	liver	carcinoma	Substitution - Missense
c.478C>T; p.R160W; 4:88131114-88131114	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.863A>C; p.N288T; 4:88115037-88115037	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1775G>A; p.C592Y; 4:88094622-88094622	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.736C>T; p.R246*; 4:88118214-88118214	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.480G>A; p.R160R; 4:88131112-88131112	skin	malignant_melanoma	Substitution - coding silent
c.167G>A; p.R56Q; 4:88139829-88139829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.934G>T; p.D312Y; 4:88114966-88114966	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.175G>A; p.V59I; 4:88139821-88139821	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>T; p.E190*; 4:88121756-88121756	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.568G>T; p.E190*; 4:88121756-88121756	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.418T>G; p.L140V; 4:88131174-88131174	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.482T>G; p.I161S; 4:88131110-88131110	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.546T>C; p.F182F; 4:88121778-88121778	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1429G>A; p.D477N; 4:88099387-88099387	skin; scalp	malignant_melanoma	Substitution - Missense
c.579G>C; p.R193S; 4:88121745-88121745	ovary	other; neoplasm	Substitution - Missense
c.491T>C; p.V164A; 4:88131101-88131101	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1080G>A; p.K360K; 4:88113417-88113417	skin	malignant_melanoma	Substitution - coding silent
c.1808G>A; p.C603Y; 4:88094589-88094589	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829T>G; p.F277V; 4:88118121-88118121	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1194+7A>G; p.?; 4:88113296-88113296	pancreas	carcinoid-endocrine_tumour	Unknown
c.393G>A; p.M131I; 4:88131199-88131199	skin	malignant_melanoma	Substitution - Missense
c.1093A>G; p.K365E; 4:88113404-88113404	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1944G>T; p.L648F; 4:88092258-88092258	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.421C>A; p.Q141K; 4:88131171-88131171	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.421C>A; p.Q141K; 4:88131171-88131171	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.421C>A; p.Q141K; 4:88131171-88131171	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421C>A; p.Q141K; 4:88131171-88131171	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1098G>A; p.E366E; 4:88113399-88113399	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.421C>A; p.Q141K; 4:88131171-88131171	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.34G>A; p.V12M; 4:88139962-88139962	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.531G>A; p.K177K; 4:88131061-88131061	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1957A>G; p.K653E; 4:88092245-88092245	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.288G>A; p.R96R; 4:88131893-88131893	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1527G>T; p.M509I; 4:88097573-88097573	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>A; p.E190K; 4:88121756-88121756	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.706C>T; p.R236*; 4:88118244-88118244	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1234A>T; p.I412F; 4:88107227-88107227	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.194C>T; p.S65L; 4:88139802-88139802	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1948T>C; p.F650L; 4:88092254-88092254	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1890C>A; p.H630Q; 4:88092312-88092312	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1716C>T; p.S572S; 4:88095541-88095541	liver	carcinoma	Substitution - coding silent
c.805C>T; p.P269S; 4:88118145-88118145	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1534A>C; p.T512P; 4:88097566-88097566	skin	malignant_melanoma	Substitution - Missense
c.649G>T; p.D217Y; 4:88121675-88121675	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.157C>T; p.L53L; 4:88139839-88139839	breast	carcinoma	Substitution - coding silent
c.928G>A; p.E310K; 4:88114972-88114972	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1253A>T; p.N418I; 4:88107208-88107208	skin	malignant_melanoma	Substitution - Missense
c.230C>T; p.A77V; 4:88132609-88132609	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1059C>T; p.S353S; 4:88113438-88113438	breast	carcinoma	Substitution - coding silent
c.1059C>T; p.S353S; 4:88113438-88113438	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1079_1081delAGA; p.K360delK; 4:88113416-88113418	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1852G>A; p.G618S; 4:88092350-88092350	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.61C>T; p.P21S; 4:88139935-88139935	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1857C>T; p.I619I; 4:88092345-88092345	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1326T>G; p.V442V; 4:88101271-88101271	skin	malignant_melanoma	Substitution - coding silent
c.431C>A; p.A144E; 4:88131161-88131161	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.195G>A; p.S65S; 4:88139801-88139801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.463C>T; p.H155Y; 4:88131129-88131129	skin; extremity	malignant_melanoma	Substitution - Missense
c.412G>T; p.E138*; 4:88131180-88131180	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.473delA; p.N158fs*11; 4:88131119-88131119	liver	carcinoma	Deletion - Frameshift
c.569A>G; p.E190G; 4:88121755-88121755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.569A>G; p.E190G; 4:88121755-88121755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1209C>G; p.V403V; 4:88107252-88107252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.569A>G; p.E190G; 4:88121755-88121755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.782C>T; p.S261L; 4:88118168-88118168	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1480T>A; p.Y494N; 4:88099336-88099336	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1280C>A; p.A427D; 4:88101317-88101317	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1831G>A; p.E611K; 4:88092371-88092371	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.882C>A; p.F294L; 4:88115018-88115018	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1336delG; p.E446fs*5; 4:88101261-88101261	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.855G>A; p.E285E; 4:88115045-88115045	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1843G>A; p.V615I; 4:88092359-88092359	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1396G>A; p.V466M; 4:88099420-88099420	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1415G>A; p.G472E; 4:88099401-88099401	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1253delA; p.N418fs*16; 4:88107208-88107208	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.565G>A; p.G189R; 4:88121759-88121759	skin	malignant_melanoma	Substitution - Missense
c.587T>G; p.I196R; 4:88121737-88121737	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1861C>G; p.L621V; 4:88092341-88092341	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.145A>T; p.K49*; 4:88139851-88139851	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1060G>T; p.G354W; 4:88113437-88113437	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>T; p.T153M; 4:88131134-88131134	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.458C>T; p.T153M; 4:88131134-88131134	large_intestine; colon	carcinoma	Substitution - Missense
c.458C>T; p.T153M; 4:88131134-88131134	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.740A>G; p.Y247C; 4:88118210-88118210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.853G>A; p.E285K; 4:88115047-88115047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1604C>A; p.S535Y; 4:88097496-88097496	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.19G>A; p.E7K; 4:88139977-88139977	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.19G>A; p.E7K; 4:88139977-88139977	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.271G>C; p.D91H; 4:88131910-88131910	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.439C>T; p.R147W; 4:88131153-88131153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>A; p.V404I; 4:88107251-88107251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.439C>T; p.R147W; 4:88131153-88131153	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.157C>G; p.L53V; 4:88139839-88139839	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.514A>C; p.K172Q; 4:88131078-88131078	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5C>T; p.S2F; 4:88139991-88139991	skin; neck	malignant_melanoma	Substitution - Missense
c.1959delA; p.K653fs*>3; 4:88092243-88092243	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.993A>T; p.K331N; 4:88113504-88113504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.527C>A; p.S176Y; 4:88131065-88131065	prostate	carcinoma	Substitution - Missense
c.18C>T; p.V6V; 4:88139978-88139978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.322A>G; p.I108V; 4:88131859-88131859	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.210C>G; p.I70M; 4:88132629-88132629	oesophagus	carcinoma	Substitution - Missense
c.1753G>A; p.E585K; 4:88094644-88094644	skin	malignant_melanoma	Substitution - Missense
c.1000G>A; p.E334K; 4:88113497-88113497	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.228C>T; p.N76N; 4:88132611-88132611	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.263C>T; p.S88L; 4:88132576-88132576	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.263C>T; p.S88L; 4:88132576-88132576	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1755A>T; p.E585D; 4:88094642-88094642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.21A>C; p.E7D; 4:88139975-88139975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1616T>G; p.L539R; 4:88097484-88097484	pancreas	carcinoma	Substitution - Missense
c.426C>T; p.F142F; 4:88131166-88131166	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.134G>A; p.R45Q; 4:88139862-88139862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1014C>T; p.N338N; 4:88113483-88113483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1175C>T; p.P392L; 4:88113322-88113322	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1594A>T; p.S532C; 4:88097506-88097506	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1559C>T; p.A520V; 4:88097541-88097541	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.336G>A; p.P112P; 4:88131845-88131845	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1521C>T; p.F507F; 4:88097579-88097579	prostate	carcinoma	Substitution - coding silent
c.930A>G; p.E310E; 4:88114970-88114970	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.775T>C; p.L259L; 4:88118175-88118175	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.812A>T; p.Q271L; 4:88118138-88118138	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.131A>T; p.Y44F; 4:88139865-88139865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1020C>A; p.S340S; 4:88113477-88113477	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.465T>A; p.H155Q; 4:88131127-88131127	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1493-2delA; p.?; 4:88097609-88097609	breast	carcinoma	Unknown
c.1056T>A; p.L352L; 4:88113441-88113441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.301G>T; p.G101*; 4:88131880-88131880	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.1296C>A; p.F432L; 4:88101301-88101301	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.590G>A; p.G197E; 4:88121734-88121734	skin	malignant_melanoma	Substitution - Missense
c.1659T>C; p.G553G; 4:88095598-88095598	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.64G>A; p.A22T; 4:88139932-88139932	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.166C>T; p.R56*; 4:88139830-88139830	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.126C>G; p.I42M; 4:88139870-88139870	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1213C>A; p.L405M; 4:88107248-88107248	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.327T>C; p.N109N; 4:88131854-88131854	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

The somatic mutations from COSMIC database