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

2 papers

NM_000376.3

p.C369G

c.1105T>G

Surrounding Variants

1 paper

NM_000376.3

p.R368L

c.1103G>T

1 paper

NM_000376.3

p.R370C

c.1108C>T

1 paper

NM_000376.3

p.R368C

c.1102C>T

2 papers

NM_000376.3

p.R370G

c.1108C>G

1 paper

NM_000376.3

p.R370L

c.1109G>T

2 papers

NM_000376.3

p.R370H

c.1109G>A

1 paper

NM_000376.3

p.I367M

c.1101C>G

1 paper

NM_000376.3

p.H371Y

c.1111C>T

1 paper

NM_000376.3

p.H371H

c.1113C>T

1 paper

NM_000376.3

p.P372L

c.1115C>T

1 paper

NM_000376.3

p.P372P

c.1116G>T

1 paper

NM_000376.3

p.P372fs

c.1114_1115fs