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.A5V

c.14C>T

Surrounding Variants

1 paper

NM_000376.3

p.A5P

c.13G>C

1 paper

NM_000376.3

p.M4I

c.12G>T

4 papers

NM_000376.3

p.M4I

c.12G>C

3 papers

NM_000376.3

p.M4I

c.12G>A

1 paper

NM_000376.3

p.M4delFs

c.11delA

1 paper

NM_000376.3

p.A3insFs

c.9dupA

1 paper

NM_000376.3

p.M4T

c.11T>C

2 papers

NM_000376.3

p.A6V

c.17C>T

1 paper

NM_000376.3

p.A6D

c.17C>A

2 papers

NM_000376.3

p.A6A

c.18C>T

1 paper

NM_000376.3

p.M4V

c.10A>G

2 papers

NM_000376.3

p.A3A

c.9A>G