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.Y293N

c.877T>A

Surrounding Variants

1 paper

NM_000376.3

p.D292H

c.874G>C

1 paper

NM_000376.3

p.D292_Y293del2

c.874_878del6

20 papers

NM_000376.3

p.Y295*

c.885C>G

20 papers

NM_000376.3

p.Y295*

c.885C>A

1 paper

NM_000376.3

p.N290S

c.869A>G

1 paper

NM_000376.3

p.R296C

c.886C>T

1 paper

NM_000376.3

p.R296S

c.886C>A

1 paper

NM_000376.3

p.G289G

c.867C>T

1 paper

NM_000376.3

p.G289D

c.866G>A

2 papers

NM_000376.3

p.V297I

c.889G>A

1 paper

NM_000376.3

p.C288Y

c.863G>A

4 papers

NM_000376.3

p.C288G

c.862T>G