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.R252Splc

c.756-2A>G

Surrounding Variants

1 paper

NM_000376.3

p.D253E

c.759C>G

1 paper

NM_000376.3

p.D253E

c.759C>A

1 paper

NM_000376.3

p.L254L

c.762C>T

1 paper

NM_000376.3

p.S256insFs

c.768dupT

1 paper

NM_000376.3

p.E257D

c.771G>T

1 paper

NM_000376.3

p.E257D

c.771G>C

1 paper

NM_000376.3

p.R252Splc

c.756-22T>G

8 papers

NM_000376.3

p.Q259E

c.775C>G

14 papers

NM_000376.3

p.Q259P

c.776A>C

1 paper

NM_000376.3

p.Q259Q

c.777G>A

1 paper

NM_000376.3

p.I260F

c.778A>T

3 papers

NM_000376.3

p.V261I

c.781G>A