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

73 papers

NM_000376.3

p.M1T

c.2T>C

NM_001017536.2

p.M51T

c.152T>C

Surrounding Variants

10 papers

NM_000376.3

p.M1R

c.2T>G

3 papers

NM_000376.3

p.M1I

c.3G>T

2 papers

NM_000376.3

p.M1I

c.3G>C

3 papers

NM_000376.3

p.M1I

c.3G>A

2 papers

NM_000376.3

p.M1V

c.1A>G

1 paper

NM_000376.3

p.E2A

c.5A>C

1 paper

NM_000376.3

p.A3V

c.8C>T

5 papers

NM_000376.3

p.A3E

c.8C>A

2 papers

NM_000376.3

p.A3A

c.9A>G

2 papers

NM_000376.3

p.A3delFs

c.8delG

1 paper

NM_000376.3

p.M4V

c.10A>G

1 paper

NM_000376.3

p.A3insFs

c.9dupA