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

2 papers

NM_000376.3

p.E42A

c.125A>C

Surrounding Variants

1 paper

NM_000376.3

p.T40_E42del0

c.120_125del6

1 paper

NM_000376.3

p.C41C

c.123T>C

4 papers

NM_000376.3

p.C41Y

c.122G>A

1 paper

NM_000376.3

p.C41R

c.121T>C

1 paper

NM_000376.3

p.C44F

c.131G>T

1 paper

NM_000376.3

p.C44Y

c.131G>A

1 paper

NM_000376.3

p.T40S

c.119C>G

1 paper

NM_000376.3

p.C44C

c.132C>T

2 papers

NM_000376.3

p.T40A

c.118A>G

13 papers

NM_000376.3

p.K45E

c.133A>G

1 paper

NM_000376.3

p.M39delFs

c.115delT

1 paper

NM_001017536.2

p.M89V

c.265A>G