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.D282G

c.845A>G

Surrounding Variants

1 paper

NM_000376.3

p.M281I

c.843G>T

1 paper

NM_000376.3

p.M281insFs

c.841_842insAA

1 paper

NM_000376.3

p.M284V

c.850A>G

2 papers

NM_000376.3

p.S285P

c.853T>C

1 paper

NM_000376.3

p.F279L

c.837C>A

18 papers

NM_000376.3

p.W286R

c.856T>C

18 papers

NM_000376.3

p.W286R

c.856T>A

1 paper

NM_000376.3

p.W286*

c.857G>A

1 paper

NM_000376.3

p.S278F

c.833C>T

7 papers

NM_000376.3

p.S278A

c.832T>G

1 paper

NM_000376.3

p.E269_E277del0

c.806_829del24

1 paper

NM_000376.3

p.T287I

c.860C>T