Entrez Gene

Basic Information
Gene ID	2099
Name	ESR1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.513G>A; p.K171K; 6:151842657-151842657	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.172G>A; p.A58T; 6:151808084-151808084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1357T>G; p.L453V; 6:152061112-152061112	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.92T>C; p.L31P; 6:151808004-151808004	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1643G>A; p.R548H; 6:152098821-152098821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.587A>G; p.H196R; 6:151842731-151842731	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1724C>T; p.S575L; 6:152098902-152098902	skin	malignant_melanoma	Substitution - Missense
c.473G>A; p.R158H; 6:151842617-151842617	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1054A>C; p.R352R; 6:151944466-151944466	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.30T>C; p.S10S; 6:151807942-151807942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.30T>C; p.S10S; 6:151807942-151807942	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.640C>T; p.Q214*; 6:151842784-151842784	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.738C>T; p.Y246Y; 6:151880749-151880749	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.738C>T; p.Y246Y; 6:151880749-151880749	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1664G>A; p.R555H; 6:152098842-152098842	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1652C>A; p.A551E; 6:152098830-152098830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1269G>T; p.E423D; 6:152061024-152061024	liver	carcinoma	Substitution - Missense
c.1269G>T; p.E423D; 6:152061024-152061024	liver	carcinoma	Substitution - Missense
c.871C>A; p.L291I; 6:151944283-151944283	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>A; p.R256Q; 6:151944179-151944179	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1556A>G; p.N519S; 6:152098734-152098734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1369G>T; p.G457*; 6:152061124-152061124	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.936C>T; p.A312A; 6:151944348-151944348	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.659T>C; p.M220T; 6:151880670-151880670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.936C>T; p.A312A; 6:151944348-151944348	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1636G>A; p.A546T; 6:152098814-152098814	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.981C>G; p.L327L; 6:151944393-151944393	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1A>G; p.M1V; 6:151807913-151807913	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.469C>T; p.R157*; 6:151842613-151842613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.935C>T; p.A312V; 6:151944347-151944347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>C; p.E380Q; 6:152011697-152011697	breast	carcinoma	Substitution - Missense
c.664C>T; p.P222S; 6:151880675-151880675	breast	carcinoma	Substitution - Missense
c.25G>A; p.A9T; 6:151807937-151807937	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1688C>T; p.T563M; 6:152098866-152098866	pancreas	carcinoma	Substitution - Missense
c.1688C>T; p.T563M; 6:152098866-152098866	pancreas	carcinoma	Substitution - Missense
c.1688C>T; p.T563M; 6:152098866-152098866	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.826G>A; p.G276S; 6:151944238-151944238	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1781C>T; p.T594M; 6:152098959-152098959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	skin	malignant_melanoma	Substitution - Missense
c.739G>A; p.E247K; 6:151880750-151880750	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.261G>C; p.A87A; 6:151808173-151808173	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.727C>T; p.R243C; 6:151880738-151880738	skin	malignant_melanoma	Substitution - Missense
c.261G>C; p.A87A; 6:151808173-151808173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.650A>G; p.N217S; 6:151880661-151880661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.496G>T; p.A166S; 6:151842640-151842640	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.496G>T; p.A166S; 6:151842640-151842640	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1243_1251delGGAAAATGT; p.G415_C417delGKC; 6:152060998-152061006	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1567G>C; p.E523Q; 6:152098745-152098745	breast	carcinoma	Substitution - Missense
c.1465C>G; p.L489V; 6:152094480-152094480	ovary	other; neoplasm	Substitution - Missense
c.276C>T; p.N92N; 6:151808188-151808188	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1613A>G; p.D538G; 6:152098791-152098791	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.1613A>G; p.D538G; 6:152098791-152098791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1470G>C; p.M490I; 6:152094485-152094485	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1610A>C; p.Y537S; 6:152098788-152098788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.671C>A; p.T224N; 6:151880682-151880682	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1713G>A; p.A571A; 6:152098891-152098891	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.703A>T; p.K235*; 6:151880714-151880714	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.81_84delCCGT; p.P29fs*79; 6:151807993-151807996	breast	carcinoma	Deletion - Frameshift
c.720C>T; p.C240C; 6:151880731-151880731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.857T>C; p.M286T; 6:151944269-151944269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.719G>A; p.C240Y; 6:151880730-151880730	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.16C>T; p.H6Y; 6:151807928-151807928	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.932C>T; p.T311M; 6:151944344-151944344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.885G>A; p.P295P; 6:151944297-151944297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.885G>A; p.P295P; 6:151944297-151944297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.932C>T; p.T311M; 6:151944344-151944344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.597C>T; p.V199V; 6:151842741-151842741	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.885G>T; p.P295P; 6:151944297-151944297	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1782G>A; p.T594T; 6:152098960-152098960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1782G>A; p.T594T; 6:152098960-152098960	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.154T>C; p.Y52H; 6:151808066-151808066	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1653G>A; p.A551A; 6:152098831-152098831	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1248A>C; p.K416N; 6:152061003-152061003	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.148G>A; p.A50T; 6:151808060-151808060	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1429C>T; p.R477*; 6:152094444-152094444	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1471G>A; p.A491T; 6:152094486-152094486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.987C>T; p.S329S; 6:151944399-151944399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.288T>G; p.G96G; 6:151808200-151808200	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.987C>T; p.S329S; 6:151944399-151944399	prostate	carcinoma	Substitution - coding silent
c.288T>G; p.G96G; 6:151808200-151808200	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1542C>A; p.I514I; 6:152094557-152094557	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1622T>A; p.L541Q; 6:152098800-152098800	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.60G>C; p.G20G; 6:151807972-151807972	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1284G>T; p.L428L; 6:152061039-152061039	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.514G>T; p.G172*; 6:151842658-151842658	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1060C>A; p.L354M; 6:151944472-151944472	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1609T>A; p.Y537N; 6:152098787-152098787	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1023G>A; p.S341S; 6:151944435-151944435	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.987C>A; p.S329S; 6:151944399-151944399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1022C>A; p.S341*; 6:151944434-151944434	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1753A>T; p.T585S; 6:152098931-152098931	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.747A>G; p.G249G; 6:151880758-151880758	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.827G>A; p.G276D; 6:151944239-151944239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.G415R; 6:152060998-152060998	skin	malignant_melanoma	Substitution - Missense
c.349C>T; p.L117L; 6:151808261-151808261	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1006C>A; p.P336T; 6:151944418-151944418	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.828C>A; p.G276G; 6:151944240-151944240	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1217C>A; p.P406H; 6:152011776-152011776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1320G>A; p.L440L; 6:152061075-152061075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.512A>T; p.K171M; 6:151842656-151842656	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1332G>A; p.E444E; 6:152061087-152061087	pancreas	carcinoma	Substitution - coding silent
c.652G>A; p.D218N; 6:151880663-151880663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1350_1355delTATTAT; p.I451_I452delII; 6:152061105-152061110	breast	carcinoma	Deletion - In frame
c.1127T>C; p.V376A; 6:152011686-152011686	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1394C>A; p.T465N; 6:152094409-152094409	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1573C>T; p.L525L; 6:152098751-152098751	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1174G>A; p.V392I; 6:152011733-152011733	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1174G>A; p.V392I; 6:152011733-152011733	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.975G>C; p.P325P; 6:151944387-151944387	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1211T>G; p.F404C; 6:152011770-152011770	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.995A>T; p.D332V; 6:151944407-151944407	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.453-1G>T; p.?; 6:151842596-151842596	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.119G>T; p.G40V; 6:151808031-151808031	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.86C>A; p.P29Q; 6:151807998-151807998	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.37G>A; p.A13T; 6:151807949-151807949	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1489C>T; p.L497L; 6:152094504-152094504	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1462C>T; p.H488Y; 6:152094477-152094477	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1733C>A; p.S578Y; 6:152098911-152098911	skin; trunk	malignant_melanoma	Substitution - Missense
c.6C>A; p.T2T; 6:151807918-151807918	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.571T>C; p.Y191H; 6:151842715-151842715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.802A>C; p.K268Q; 6:151944214-151944214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.681C>A; p.C227*; 6:151880692-151880692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.832G>T; p.G278C; 6:151944244-151944244	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>T; p.R158C; 6:151842616-151842616	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.472C>T; p.R158C; 6:151842616-151842616	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.472C>T; p.R158C; 6:151842616-151842616	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1344C>G; p.L448L; 6:152061099-152061099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1344C>G; p.L448L; 6:152061099-152061099	breast	carcinoma	Substitution - coding silent
c.822G>A; p.G274G; 6:151944234-151944234	breast	carcinoma	Substitution - coding silent
c.1635C>T; p.D545D; 6:152098813-152098813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1262_1264delTGG; p.V422delV; 6:152061017-152061019	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1022C>T; p.S341L; 6:151944434-151944434	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.919G>T; p.A307S; 6:151944331-151944331	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.54C>T; p.I18I; 6:151807966-151807966	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1778C>A; p.A593D; 6:152098956-152098956	breast	carcinoma	Substitution - Missense
c.1754C>T; p.T585M; 6:152098932-152098932	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1461C>T; p.I487I; 6:152094476-152094476	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.632G>T; p.R211I; 6:151842776-151842776	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.544A>G; p.T182A; 6:151842688-151842688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>A; p.D190N; 6:151842712-151842712	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.544A>G; p.T182A; 6:151842688-151842688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.345G>A; p.P115P; 6:151808257-151808257	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.643G>T; p.G215*; 6:151842787-151842787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1116C>G; p.L372L; 6:152011675-152011675	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.29C>G; p.S10C; 6:151807941-151807941	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.202G>A; p.A68T; 6:151808114-151808114	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.776G>A; p.R259Q; 6:151944188-151944188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1117C>A; p.H373N; 6:152011676-152011676	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1597G>A; p.V533M; 6:152098775-152098775	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1652C>T; p.A551V; 6:152098830-152098830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1597G>A; p.V533M; 6:152098775-152098775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1652C>T; p.A551V; 6:152098830-152098830	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1597G>A; p.V533M; 6:152098775-152098775	prostate	carcinoma	Substitution - Missense
c.1329G>T; p.E443D; 6:152061084-152061084	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1148G>A; p.W383*; 6:152011707-152011707	thyroid	carcinoma	Substitution - Nonsense
c.342G>A; p.P114P; 6:151808254-151808254	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1300C>T; p.R434W; 6:152061055-152061055	skin	malignant_melanoma	Substitution - Missense
c.1300C>T; p.R434W; 6:152061055-152061055	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1610A>G; p.Y537C; 6:152098788-152098788	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.411C>A; p.S137R; 6:151808323-151808323	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.726C>T; p.L242L; 6:151880737-151880737	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.792G>T; p.M264I; 6:151944204-151944204	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1388C>T; p.S463F; 6:152094403-152094403	skin	malignant_melanoma	Substitution - Missense
c.240delC; p.Y80fs*1; 6:151808152-151808152	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift

The somatic mutations from COSMIC database