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.A349G

c.1046C>G

Surrounding Variants

2 papers

NM_000376.3

p.A349T

c.1045G>A

1 paper

NM_000376.3

p.A350T

c.1048G>A

2 papers

NM_000376.3

p.D348N

c.1042G>A

1 paper

NM_000376.3

p.Q347L

c.1040A>T

1 paper

NM_000376.3

p.Q347R

c.1040A>G

1 paper

NM_000376.3

p.I352T

c.1055T>C

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

14 papers

NM_000376.3

p.V346M

c.1036G>A

1 paper

NM_000376.3

p.A354V

c.1061C>T

1 paper

NM_000376.3

p.P344S

c.1030C>T