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.Q356insFs

c.1068dupG

Surrounding Variants

1 paper

NM_000376.3

p.D357N

c.1069G>A

1 paper

NM_000376.3

p.Q356Q

c.1068G>A

3 papers

NM_000376.3

p.R358H

c.1073G>A

NM_001017536.2

p.R408H

c.1223G>A

2 papers

NM_000376.3

p.Q356*

c.1066C>T

3 papers

NM_000376.3

p.S360P

c.1078T>C

1 paper

NM_000376.3

p.A354V

c.1061C>T

1 paper

NM_000376.3

p.L359insFs

c.1076_1077dupTG

1 paper

NM_000376.3

p.S360Y

c.1079C>A

11 papers

NM_000376.3

p.N361S

c.1082A>G

2 papers

NM_000376.3

p.I352M

c.1056T>G

36 papers

NM_000376.3

p.I352I

c.1056T>C

1 paper

NM_000376.3

p.I352I

c.1056T>A