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.R274delFs

c.821delC

Surrounding Variants

3 papers

NM_000376.3

p.S275A

c.823T>G

39 papers

NM_000376.3

p.R274L

c.821G>T

2 papers

NM_000376.3

p.R274P

c.821G>C

10 papers

NM_000376.3

p.R274H

c.821G>A

1 paper

NM_000376.3

p.E269_R274del0

c.806_820del15

3 papers

NM_000376.3

p.R274C

c.820C>T

1 paper

NM_000376.3

p.S275F

c.824C>T

1 paper

NM_000376.3

p.L273W

c.818T>G

2 papers

NM_000376.3

p.N276Y

c.826A>T

1 paper

NM_000376.3

p.E277A

c.830A>C

7 papers

NM_000376.3

p.S278A

c.832T>G

1 paper

NM_000376.3

p.E269_E277del0

c.806_829del24