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

5 papers

NM_000376.3

p.H397P

c.1190A>C

Surrounding Variants

4 papers

NM_000376.3

p.H397Y

c.1189C>T

1 paper

NM_000376.3

p.H397D

c.1189C>G

1 paper

NM_000376.3

p.E396A

c.1187A>C

1 paper

NM_000376.3

p.E396*

c.1186G>T

2 papers

NM_000376.3

p.E396K

c.1186G>A

1 paper

NM_000376.3

p.K399Q

c.1195A>C

1 paper

NM_000376.3

p.K399R

c.1196A>G

2 papers

NM_000376.3

p.E395Q

c.1183G>C

1 paper

NM_000376.3

p.N394D

c.1180A>G

1 paper

NM_000376.3

p.L393R

c.1178T>G

7 papers

NM_000376.3

p.Y401*

c.1203C>G

7 papers

NM_000376.3

p.Y401*

c.1203C>A