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.F48I

c.142T>A

Surrounding Variants

1 paper

NM_000376.3

p.F47F

c.141C>T

1 paper

NM_000376.3

p.F47delFs

c.140delA

1 paper

NM_000376.3

p.F48fs

c.142_143fs

1 paper

NM_000376.3

p.F48L

c.144C>A

4 papers

NM_000376.3

p.F47I

c.139T>A

1 paper

NM_000376.3

p.G46G

c.138C>A

1 paper

NM_000376.3

p.G46V

c.137G>T

3 papers

NM_000376.3

p.G46A

c.137G>C

12 papers

NM_000376.3

p.G46D

c.137G>A

2 papers

NM_000376.3

p.R49Splc

c.146+1G>A

1 paper

NM_000376.3

p.A38_K45del0

c.112_135del24

1 paper

NM_000376.3

p.K45N

c.135A>C