| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7421 |
Name | VDR |
Synonymous | NR1I1;vitamin D (1,25- dihydroxyvitamin D3) receptor;VDR;vitamin D (1,25- dihydroxyvitamin D3) receptor |
Definition | 1,25-dihydroxyvitamin D3 receptor|nuclear receptor subfamily 1 group I member 1|vitamin D nuclear receptor variant 1|vitamin D3 receptor |
Position | 12q13.11 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for VDR | ||
PCGP somatic mutation [Top] | ||
There is no record for VDR | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1205G>C; p.R402P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1205G>C; p.R402P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1058A>T; p.E353V; |
skin; foot | malignant_melanoma; acral_lentiginous |
c.1072C>T; p.R358C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.460C>T; p.R154W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1094C>T; p.T365M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1135C>T; p.L379F; 12:46524945-46524945 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.507G>A; p.R169R; |
oesophagus | carcinoma; adenocarcinoma |
c.708C>A; p.Y236*; |
liver | carcinoma |
c.757G>T; p.D253Y; |
lung | carcinoma; adenocarcinoma |
c.820C>T; p.R274C; |
lung | carcinoma; adenocarcinoma |
c.541G>T; p.D181Y; |
lung | carcinoma; adenocarcinoma |
c.573C>A; p.I191I; |
lung | carcinoma; adenocarcinoma |
c.820C>T; p.R274C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.233C>G; p.A78G; |
ovary | carcinoma; serous_carcinoma |
c.907+1G>T; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.23C>T; p.T8I; |
lung | carcinoma; squamous_cell_carcinoma |
c.1050G>A; p.A350A; |
lung | carcinoma; squamous_cell_carcinoma |
c.477G>C; p.V159V; |
lung | carcinoma; squamous_cell_carcinoma |
c.481G>A; p.D161N; |
lung | carcinoma; squamous_cell_carcinoma |
c.623G>T; p.S208I; |
lung | carcinoma; squamous_cell_carcinoma |
c.445G>T; p.D149Y; |
ovary | carcinoma; serous_carcinoma |
c.1049C>T; p.A350V; |
ovary | carcinoma; serous_carcinoma |
c.597G>A; p.S199S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1254G>T; p.V418V; |
lung | carcinoma; adenocarcinoma |
c.156G>A; p.M52I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.438C>G; p.T146T; 12:46537578-46537578 |
ovary | carcinoma; serous_carcinoma |
c.1196A>T; p.K399M; |
lung | carcinoma; squamous_cell_carcinoma |
c.1015G>A; p.V339I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.774C>A; p.D258E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1028G>A; p.R343H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.897C>T; p.D299D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1122G>A; p.P374P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1103G>A; p.R368H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.389G>A; p.R130H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.98G>A; p.G33D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.960G>A; p.L320L; |
breast | carcinoma |
c.472C>T; p.R158C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1056T>C; p.I352I; |
breast | carcinoma |
c.221G>A; p.R74H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1258G>A; p.E420K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.472C>T; p.R158C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.234C>T; p.A78A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.437C>T; p.T146I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.887G>A; p.R296H; |
urinary_tract; bladder | carcinoma |
c.484G>T; p.G162C; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.477G>T; p.V159V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |