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

1 paper

NM_000376.3

p.G33G

c.99C>G

Surrounding Variants

1 paper

NM_000376.3

p.G33V

c.98G>T

1 paper

NM_000376.3

p.G33A

c.98G>C

12 papers

NM_000376.3

p.G33D

c.98G>A

1 paper

NM_000376.3

p.G33S

c.97G>A

1 paper

NM_000376.3

p.T32I

c.95C>T

1 paper

NM_000376.3

p.H35R

c.104A>G

7 papers

NM_000376.3

p.H35Q

c.105C>G

6 papers

NM_000376.3

p.H35Q

c.105C>A

1 paper

NM_000376.3

p.A31V

c.92C>T

1 paper

NM_000376.3

p.A31G

c.92C>G

1 paper

NM_000376.3

p.A31T

c.91G>A

2 papers

NM_000376.3

p.R30Q

c.89G>A