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.L332P

c.995T>C

Surrounding Variants

1 paper

NM_000376.3

p.L332R

c.995T>G

1 paper

NM_000376.3

p.L333_M334insFs

c.999_1000ins7

1 paper

NM_000376.3

p.M334T

c.1001T>C

1 paper

NM_000376.3

p.A335T

c.1003G>A

1 paper

NM_000376.3

p.E329Q

c.985G>C

16 papers

NM_000376.3

p.E329K

c.985G>A

2 papers

NM_000376.3

p.C337G

c.1009T>G

1 paper

NM_000376.3

p.C337Y

c.1010G>A

36 papers

NM_000376.3

p.I338V

c.1012A>G

2 papers

NM_000376.3

p.V339I

c.1015G>A

3 papers

NM_000376.3

p.V339A

c.1016T>C

1 paper

NM_000376.3

p.S340F

c.1019C>T