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.L309V

c.925C>G

Surrounding Variants

1 paper

NM_000376.3

p.I310L

c.928A>C

1 paper

NM_000376.3

p.L307P

c.920T>C

1 paper

NM_000376.3

p.P312T

c.934C>A

34 papers

NM_000376.3

p.H305Q

c.915C>G

34 papers

NM_000376.3

p.H305Q

c.915C>A

2 papers

NM_000376.3

p.P312P

c.936C>T

1 paper

NM_000376.3

p.H305Y

c.913C>T

1 paper

NM_000376.3

p.G304E

c.911G>A

1 paper

NM_000376.3

p.G304R

c.910G>C

1 paper

NM_000376.3

p.G304R

c.910G>A

1 paper

NM_000376.3

p.I314V

c.940A>G

26 papers

NM_000376.3

p.I314S

c.941T>G