VDR
vitamin D receptor
Summary
This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
Known Variants463 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11574143 | 12:48,234,917 | C/T | downstream gene variant | — |
| rs11574139 | 12:48,235,555 | T/A | — | likely benign |
| rs760268626 | 12:48,235,556 | C/T | — | uncertain significance |
| rs527373238 | 12:48,235,629 | T/G | — | uncertain significance |
| rs886049412 | 12:48,235,651 | T/C | — | uncertain significance |
| rs73109835 | 12:48,235,697 | G/A | — | uncertain significance |
| rs11574138 | 12:48,235,702 | T/C | — | likely benign |
| rs2853563 | 12:48,235,738 | C/T | — | benign |
| rs11168263 | 12:48,235,936 | T/C | — | likely benign |
| rs765177595 | 12:48,235,984 | C/A | — | uncertain significance |
| rs771839812 | 12:48,236,000 | C/T | — | uncertain significance |
| rs137869743 | 12:48,236,038 | T/G | — | uncertain significance |
| rs959744860 | 12:48,236,065 | G/C | — | uncertain significance |
| rs11574137 | 12:48,236,073 | G/A | — | uncertain significance |
| rs146017596 | 12:48,236,083 | C/T | — | uncertain significance |
| rs886049414 | 12:48,236,116 | C/G | — | uncertain significance |
| rs886049415 | 12:48,236,138 | G/C | — | uncertain significance |
| rs886049416 | 12:48,236,170 | G/T | — | uncertain significance |
| rs770829205 | 12:48,236,201 | G/C | — | uncertain significance |
| rs186045639 | 12:48,236,220 | G/A | — | uncertain significance |
| rs868657217 | 12:48,236,233 | A/G | — | uncertain significance |
| rs886049417 | 12:48,236,266 | C/T | — | uncertain significance |
| rs138753910 | 12:48,236,302 | C/T | — | uncertain significance |
| rs11574136 | 12:48,236,303 | G/A | — | uncertain significance |
| rs886049418 | 12:48,236,361 | C/G | — | uncertain significance |
| rs2853562 | 12:48,236,386 | T/A | — | benign |
| rs973050505 | 12:48,236,402 | G/A | — | uncertain significance |
| rs371312471 | 12:48,236,427 | G/T | — | uncertain significance |
| rs767636971 | 12:48,236,482 | C/T | — | uncertain significance |
| rs886049424 | 12:48,236,495 | T/A | — | uncertain significance |
| rs11574135 | 12:48,236,506 | C/T | — | uncertain significance |
| rs142851923 | 12:48,236,537 | G/A | — | uncertain significance |
| rs886049425 | 12:48,236,547 | G/A | — | uncertain significance |
| rs2544043 | 12:48,236,550 | C/G | — | benign |
| rs9729 | 12:48,236,623 | G/C | — | uncertain significance |
| rs11540149 | 12:48,236,664 | C/T | — | uncertain significance |
| rs886049426 | 12:48,236,724 | T/A | — | uncertain significance |
| rs11574134 | 12:48,236,863 | T/G | — | uncertain significance |
| rs1036167478 | 12:48,237,024 | C/T | — | uncertain significance |
| rs115591719 | 12:48,237,026 | C/T | — | benign |
| rs546483718 | 12:48,237,047 | C/G | — | uncertain significance |
| rs11574132 | 12:48,237,052 | G/A | — | uncertain significance |
| rs752109177 | 12:48,237,092 | C/G | — | uncertain significance |
| rs56382517 | 12:48,237,109 | A/G | — | uncertain significance |
| rs11574131 | 12:48,237,210 | G/A | — | uncertain significance |
| rs7967673 | 12:48,237,248 | C/T | — | likely benign |
| rs886049427 | 12:48,237,276 | A/T | — | uncertain significance |
| rs7954412 | 12:48,237,287 | T/C | — | likely benign |
| rs11574129 | 12:48,237,303 | A/G | 3 prime UTR variant | benign |
| rs746110425 | 12:48,237,338 | C/T | — | uncertain significance |
| rs886049428 | 12:48,237,351 | T/G | — | uncertain significance |
| rs775657996 | 12:48,237,562 | G/T | — | uncertain significance |
| rs546175308 | 12:48,237,647 | G/T | — | uncertain significance |
| rs556844112 | 12:48,237,652 | G/C | — | uncertain significance |
| rs576342182 | 12:48,237,686 | G/A | — | uncertain significance |
| rs886049430 | 12:48,237,702 | G/A | — | uncertain significance |
| rs78783628 | 12:48,237,736 | — | — | — |
| rs550578263 | 12:48,237,756 | A/C | — | uncertain significance |
| rs11574124 | 12:48,237,781 | A/C | — | uncertain significance |
| rs1945224092 | 12:48,237,906 | T/C | — | uncertain significance |
| rs11574121 | 12:48,237,928 | G/A | — | uncertain significance |
| rs3858733 | 12:48,237,967 | T/G | — | likely benign |
| rs886049431 | 12:48,237,995 | A/G | — | uncertain significance |
| rs187706787 | 12:48,238,042 | G/A | — | uncertain significance |
| rs3847987 | 12:48,238,068 | C/A | 3 prime UTR variant | benign |
| rs11574119 | 12:48,238,092 | G/C | — | likely benign |
| rs1238324914 | 12:48,238,114 | G/A | — | uncertain significance |
| rs11574118 | 12:48,238,120 | C/T | — | likely benign |
| rs112308011 | 12:48,238,121 | A/G | — | likely benign |
| rs886049432 | 12:48,238,124 | C/A | — | uncertain significance |
| rs547101168 | 12:48,238,125 | G/A | — | uncertain significance |
| rs886049433 | 12:48,238,142 | G/C | — | uncertain significance |
| rs739837 | 12:48,238,221 | G/T | regulatory region variant | benign |
| rs886049434 | 12:48,238,231 | G/A | — | uncertain significance |
| rs11574117 | 12:48,238,307 | C/G | — | conflicting classifications of pathogenicity |
| rs11574116 | 12:48,238,345 | A/C | — | conflicting classifications of pathogenicity |
| rs886049435 | 12:48,238,418 | G/T | — | uncertain significance |
| rs548542386 | 12:48,238,432 | C/T | — | uncertain significance |
| rs527310161 | 12:48,238,458 | C/T | — | uncertain significance |
| rs886049436 | 12:48,238,459 | G/A | — | uncertain significance |
| rs539180933 | 12:48,238,478 | C/T | — | uncertain significance |
| rs2539964765 | 12:48,238,540 | C/T | — | uncertain significance |
| rs550308645 | 12:48,238,556 | G/C | — | likely benign |
| rs2539964871 | 12:48,238,571 | T/G | — | likely benign |
| rs1384929542 | 12:48,238,580 | G/A | — | likely benign |
| rs1945243453 | 12:48,238,584 | C/A | — | uncertain significance |
| rs1245498873 | 12:48,238,597 | A/T | — | uncertain significance |
| rs1283059621 | 12:48,238,599 | G/A | — | uncertain significance |
| rs2229829 | 12:48,238,607 | G/T | — | likely benign |
| rs2539964970 | 12:48,238,608 | C/T | — | uncertain significance |
| rs1945244160 | 12:48,238,609 | G/A | — | uncertain significance |
| rs150142901 | 12:48,238,622 | G/A | — | likely benign |
| rs886037890 | 12:48,238,623 | T/G | missense variant | pathogenic |
| rs2539964996 | 12:48,238,627 | C/T | — | uncertain significance |
| rs770478114 | 12:48,238,628 | C/T | — | likely benign |
| rs1472591641 | 12:48,238,630 | C/G | — | uncertain significance |
| rs1945244588 | 12:48,238,631 | A/G | — | likely benign |
| rs2539965052 | 12:48,238,640 | G/A | — | likely benign |
| rs776088779 | 12:48,238,641 | C/T | — | pathogenic |
| rs121909800 | 12:48,238,642 | G/A | missense variant | pathogenic |
Showing 100 of 463 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.