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

2 papers

NM_000376.3

p.C410S

c.1229G>C

Surrounding Variants

2 papers

NM_000376.3

p.C410F

c.1229G>T

1 paper

NM_000376.3

p.C410Y

c.1229G>A

1 paper

NM_000376.3

p.C410S

c.1228T>A

1 paper

NM_000376.3

p.C410W

c.1230C>G

1 paper

NM_000376.3

p.E409K

c.1225G>A

1 paper

NM_000376.3

p.M412I

c.1236G>A

1 paper

NM_000376.3

p.Q407_P408insFs

c.1221_1222insC

2 papers

NM_000376.3

p.K413R

c.1238A>G

1 paper

NM_000376.3

p.F406F

c.1218C>T

2 papers

NM_000376.3

p.L414V

c.1240C>G

1 paper

NM_000376.3

p.F406L

c.1216T>C

1 paper

NM_000376.3

p.F406I

c.1216T>A