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.D12G

c.35A>G

Surrounding Variants

1 paper

NM_000376.3

p.D12V

c.35A>T

1 paper

NM_000376.3

p.D12H

c.34G>C

2 papers

NM_000376.3

p.P11L

c.32C>T

1 paper

NM_000376.3

p.L10L

c.30G>C

2 papers

NM_000376.3

p.G14R

c.40G>A

1 paper

NM_000376.3

p.L10L

c.30G>A

2 papers

NM_000376.3

p.L10P

c.29T>C

1 paper

NM_000376.3

p.G14A

c.41G>C

1 paper

NM_000376.3

p.F16S

c.47T>C

1 paper

NM_000376.3

p.F16F

c.48T>C

1 paper

NM_000376.3

p.T8A

c.22A>G

1 paper

NM_000376.3

p.T8P

c.22A>C