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.R18Q

c.53G>A

Surrounding Variants

2 papers

NM_000376.3

p.R18W

c.52C>T

1 paper

NM_000376.3

p.D17Y

c.49G>T

1 paper

NM_000376.3

p.F16F

c.48T>C

1 paper

NM_000376.3

p.V20L

c.58G>T

1 paper

NM_000376.3

p.V20M

c.58G>A

1 paper

NM_000376.3

p.F16S

c.47T>C

1 paper

NM_000376.3

p.V20V

c.60G>A

1 paper

NM_000376.3

p.P21S

c.61C>T

1 paper

NM_000376.3

p.P21A

c.61C>G

1 paper

NM_000376.3

p.P21P

c.63C>G

3 papers

NM_000376.3

p.R22W

c.64C>T

1 paper

NM_000376.3

p.R22P

c.65G>C