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.S298R

c.894T>G

Surrounding Variants

1 paper

NM_000376.3

p.S298R

c.894T>A

8 papers

NM_000376.3

p.D299G

c.896A>G

2 papers

NM_000376.3

p.D299A

c.896A>C

1 paper

NM_000376.3

p.S298R

c.892A>C

2 papers

NM_000376.3

p.V300M

c.898G>A

1 paper

NM_000376.3

p.V300G

c.899T>G

1 paper

NM_000376.3

p.V300A

c.899T>C

2 papers

NM_000376.3

p.V297I

c.889G>A

1 paper

NM_000376.3

p.T301A

c.901A>G

1 paper

NM_000376.3

p.R296C

c.886C>T

1 paper

NM_000376.3

p.R296S

c.886C>A

20 papers

NM_000376.3

p.Y295*

c.885C>G