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

3 papers

NM_000376.3

p.D29G

c.86A>G

Surrounding Variants

1 paper

NM_000376.3

p.D29A

c.86A>C

1 paper

NM_000376.3

p.D29D

c.87C>T

19 papers

NM_000376.3

p.R30*

c.88C>T

2 papers

NM_000376.3

p.R30Q

c.89G>A

1 paper

NM_000376.3

p.A31T

c.91G>A

1 paper

NM_000376.3

p.C27Y

c.80G>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.C27R

c.79T>C

1 paper

NM_000376.3

p.V26A

c.77T>C

1 paper

NM_000376.3

p.T32I

c.95C>T

10 papers

NM_000376.3

p.V26M

c.76G>A