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

1–12 of 634 variants

72 papers

NM_000376.3

p.M1T

c.2T>C

39 papers

NM_000376.3

p.R274L

c.821G>T

36 papers

NM_000376.3

p.I338V

c.1012A>G

36 papers

NM_000376.3

p.I352I

c.1056T>C

34 papers

NM_000376.3

p.H305Q

c.915C>G

34 papers

NM_000376.3

p.H305Q

c.915C>A

28 papers

NM_000376.3

p.R391C

c.1171C>T

27 papers

NM_000376.3

p.E420K

c.1258G>A

26 papers

NM_000376.3

p.I314S

c.941T>G

22 papers

NM_000376.3

p.E420A

c.1259A>C

20 papers

NM_000376.3

p.Y295*

c.885C>G

20 papers

NM_000376.3

p.Y295*

c.885C>A