Varaico: Literature-Extracted Genetic Variants

VDR

1,073 papers

RefSeq 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 secon...

Pfam Domains

zf-C4aa 22–91UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 216–406UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

vitamin D receptor

HGNC Alias Symbols

NR1I1; PPP1R163

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_000376.3

p.Q317*

c.949C>T

Surrounding Variants

1 paper

NM_000376.3

p.V318E

c.953T>A

1 paper

NM_000376.3

p.K315N

c.945G>T

1 paper

NM_000376.3

p.K315N

c.945G>C

1 paper

NM_000376.3

p.G319*

c.955G>T

1 paper

NM_000376.3

p.G319R

c.955G>A

8 papers

NM_000376.3

p.G319V

c.956G>T

26 papers

NM_000376.3

p.I314S

c.941T>G

1 paper

NM_000376.3

p.I314V

c.940A>G

1 paper

NM_000376.3

p.K321insFs

c.961_962insG

2 papers

NM_000376.3

p.P312P

c.936C>T

1 paper

NM_000376.3

p.P312T

c.934C>A

1 paper

NM_000376.3

p.K322E

c.964A>G