Entrez Gene

Basic Information
Gene ID	7421
Name	VDR

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.17C>T; p.A6V; 12:47879097-47879097	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.897C>T; p.D299D; 12:47846667-47846667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.156G>A; p.M52I; 12:47865168-47865168	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.834C>T; p.S278S; 12:47846730-47846730	skin	malignant_melanoma	Substitution - coding silent
c.1258G>A; p.E420K; 12:47844772-47844772	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.221G>A; p.R74H; 12:47865103-47865103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.221G>A; p.R74H; 12:47865103-47865103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.221G>A; p.R74H; 12:47865103-47865103	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1049C>T; p.A350V; 12:47844981-47844981	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.573C>A; p.I191I; 12:47857139-47857139	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.453C>T; p.C151C; 12:47857513-47857513	liver	carcinoma	Substitution - coding silent
c.757G>T; p.D253Y; 12:47846807-47846807	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1056T>C; p.I352I; 12:47844974-47844974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1056T>C; p.I352I; 12:47844974-47844974	breast	carcinoma	Substitution - coding silent
c.1056T>C; p.I352I; 12:47844974-47844974	thyroid	other; neoplasm	Substitution - coding silent
c.1056T>C; p.I352I; 12:47844974-47844974	thyroid	other; neoplasm	Substitution - coding silent
c.597G>A; p.S199S; 12:47855788-47855788	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1135C>T; p.L379F; 12:47844895-47844895	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.423G>A; p.K141K; 12:47857543-47857543	skin	malignant_melanoma	Substitution - coding silent
c.1205G>C; p.R402P; 12:47844825-47844825	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1205G>C; p.R402P; 12:47844825-47844825	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1122G>A; p.P374P; 12:47844908-47844908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.365C>A; p.P122H; 12:47857601-47857601	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.907+1G>T; p.?; 12:47846656-47846656	lung	carcinoma; small_cell_carcinoma	Unknown
c.1058A>T; p.E353V; 12:47844972-47844972	skin; foot	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.365C>A; p.P122H; 12:47857601-47857601	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.477G>C; p.V159V; 12:47857235-47857235	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2T>C; p.M1T; 12:47879112-47879112	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.472C>T; p.R158C; 12:47857240-47857240	skin	malignant_melanoma	Substitution - Missense
c.472C>T; p.R158C; 12:47857240-47857240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.472C>T; p.R158C; 12:47857240-47857240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.623G>T; p.S208I; 12:47855762-47855762	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.311G>T; p.R104L; 12:47857655-47857655	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.541G>T; p.D181Y; 12:47857171-47857171	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1050G>A; p.A350A; 12:47844980-47844980	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.548C>T; p.S183F; 12:47857164-47857164	skin	malignant_melanoma	Substitution - Missense
c.429C>T; p.Y143Y; 12:47857537-47857537	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.429C>T; p.Y143Y; 12:47857537-47857537	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1015G>A; p.V339I; 12:47846344-47846344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.445G>T; p.D149Y; 12:47857521-47857521	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1175G>C; p.S392T; 12:47844855-47844855	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.887G>A; p.R296H; 12:47846677-47846677	urinary_tract; bladder	carcinoma	Substitution - Missense
c.155T>G; p.M52R; 12:47865169-47865169	pancreas	carcinoma	Substitution - Missense
c.960G>A; p.L320L; 12:47846399-47846399	breast	carcinoma	Substitution - coding silent
c.1116G>A; p.P372P; 12:47844914-47844914	liver	carcinoma	Substitution - coding silent
c.1239G>A; p.K413K; 12:47844791-47844791	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1116G>A; p.P372P; 12:47844914-47844914	liver	carcinoma	Substitution - coding silent
c.1116G>A; p.P372P; 12:47844914-47844914	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.434C>T; p.P145L; 12:47857532-47857532	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.150_151delAA; p.S51fs*47; 12:47865173-47865174	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.800C>T; p.A267V; 12:47846764-47846764	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1215C>T; p.S405S; 12:47844815-47844815	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1215C>T; p.S405S; 12:47844815-47844815	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.234C>T; p.A78A; 12:47865090-47865090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.484G>T; p.G162C; 12:47857228-47857228	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.692C>T; p.A231V; 12:47855693-47855693	skin	malignant_melanoma	Substitution - Missense
c.847G>C; p.D283H; 12:47846717-47846717	skin	malignant_melanoma	Substitution - Missense
c.460C>T; p.R154W; 12:47857506-47857506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.774C>A; p.D258E; 12:47846790-47846790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.961A>G; p.K321E; 12:47846398-47846398	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.52C>T; p.R18W; 12:47879062-47879062	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.742A>G; p.I248V; 12:47855643-47855643	pancreas	carcinoma	Substitution - Missense
c.1103G>A; p.R368H; 12:47844927-47844927	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.23C>T; p.T8I; 12:47879091-47879091	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.381G>A; p.E127E; 12:47857585-47857585	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.837C>T; p.F279F; 12:47846727-47846727	skin	malignant_melanoma	Substitution - coding silent
c.437C>T; p.T146I; 12:47857529-47857529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.708C>A; p.Y236*; 12:47855677-47855677	liver	carcinoma	Substitution - Nonsense
c.708C>A; p.Y236*; 12:47855677-47855677	liver	carcinoma	Substitution - Nonsense
c.144C>T; p.F48F; 12:47878970-47878970	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.507G>A; p.R169R; 12:47857205-47857205	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1205G>A; p.R402H; 12:47844825-47844825	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1094C>T; p.T365M; 12:47844936-47844936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.27C>T; p.S9S; 12:47879087-47879087	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.438C>G; p.T146T; 12:47857528-47857528	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.762C>T; p.L254L; 12:47846802-47846802	prostate	carcinoma	Substitution - coding silent
c.389G>A; p.R130H; 12:47857577-47857577	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.155T>C; p.M52T; 12:47865169-47865169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.885C>T; p.Y295Y; 12:47846679-47846679	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.781G>A; p.V261I; 12:47846783-47846783	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.98G>A; p.G33D; 12:47879016-47879016	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.820C>T; p.R274C; 12:47846744-47846744	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.820C>T; p.R274C; 12:47846744-47846744	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.820C>T; p.R274C; 12:47846744-47846744	thyroid	carcinoma	Substitution - Missense
c.820C>T; p.R274C; 12:47846744-47846744	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.477G>T; p.V159V; 12:47857235-47857235	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1072C>T; p.R358C; 12:47844958-47844958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1196A>T; p.K399M; 12:47844834-47844834	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.146+2T>C; p.?; 12:47878966-47878966	stomach	carcinoma; adenocarcinoma	Unknown
c.1254G>T; p.V418V; 12:47844776-47844776	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1198C>T; p.Q400*; 12:47844832-47844832	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.481G>A; p.D161N; 12:47857231-47857231	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.233C>G; p.A78G; 12:47865091-47865091	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1028G>A; p.R343H; 12:47845002-47845002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.83G>C; p.G28A; 12:47879031-47879031	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.437C>A; p.T146N; 12:47857529-47857529	ovary	other; neoplasm	Substitution - Missense
c.362G>A; p.R121Q; 12:47857604-47857604	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.217C>T; p.R73*; 12:47865107-47865107	skin	malignant_melanoma	Substitution - Nonsense
c.31C>T; p.P11S; 12:47879083-47879083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database