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.R22insFs

c.66dupG

Surrounding Variants

1 paper

NM_000376.3

p.I23fs

c.67_68fs

1 paper

NM_000376.3

p.R22P

c.65G>C

3 papers

NM_000376.3

p.R22Q

c.65G>A

1 paper

NM_000376.3

p.I23I

c.69C>T

3 papers

NM_000376.3

p.R22W

c.64C>T

1 paper

NM_000376.3

p.C24Y

c.71G>A

1 paper

NM_000376.3

p.P21P

c.63C>G

1 paper

NM_000376.3

p.G25R

c.73G>A

1 paper

NM_000376.3

p.P21S

c.61C>T

1 paper

NM_000376.3

p.P21A

c.61C>G

1 paper

NM_000376.3

p.V20V

c.60G>A

1 paper

NM_000376.3

p.G25_V26insFs

c.75_76insA