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.L419R

c.1256T>G

Surrounding Variants

10 papers

NM_000376.3

p.E420Q

c.1258G>C

27 papers

NM_000376.3

p.E420K

c.1258G>A

2 papers

NM_000376.3

p.V418A

c.1253T>C

1 paper

NM_000376.3

p.V418E

c.1253T>A

22 papers

NM_000376.3

p.E420A

c.1259A>C

3 papers

NM_000376.3

p.V418L

c.1252G>T

3 papers

NM_000376.3

p.V418L

c.1252G>C

1 paper

NM_000376.3

p.V421M

c.1261G>A

1 paper

NM_000376.3

p.L417R

c.1250T>G

1 paper

NM_000376.3

p.V421A

c.1262T>C

1 paper

NM_000376.3

p.F422V

c.1264T>G

6 papers

NM_000376.3

p.T415T

c.1245G>T