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

7 papers

NM_000376.3

p.Y401*

c.1203C>A

Surrounding Variants

7 papers

NM_000376.3

p.Y401*

c.1203C>G

1 paper

NM_000376.3

p.R402C

c.1204C>T

1 paper

NM_000376.3

p.R402H

c.1205G>A

2 papers

NM_000376.3

p.L404F

c.1210C>T

2 papers

NM_000376.3

p.L404V

c.1210C>G

1 paper

NM_000376.3

p.K399R

c.1196A>G

1 paper

NM_000376.3

p.K399Q

c.1195A>C

1 paper

NM_000376.3

p.S405F

c.1214C>T

1 paper

NM_000376.3

p.S405S

c.1215C>T

1 paper

NM_000376.3

p.F406L

c.1216T>C

1 paper

NM_000376.3

p.F406I

c.1216T>A

5 papers

NM_000376.3

p.H397P

c.1190A>C