Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.Y117S

AVPR2

565 papers

RefSeq Summary

This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus...

Pfam Domains

7tm_1aa 54–325UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

arginine vasopressin receptor 2

HGNC Previous Symbols

DIR3; DIR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000054.7
p.Y117S
c.350A>C
Surrounding Variants
1 paper
NM_000054.7
p.Y117C
c.350A>G
1 paper
NM_000054.7
p.Y117F
c.350A>T
1 paper
NM_000054.7
p.Y117*
c.351T>A
2 papers
NM_000054.7
p.Y117D
c.349T>G
1 paper
NM_000054.7
p.Y117*
c.351T>G
1 paper
NM_000054.7
p.L118M
c.352C>A
1 paper
NM_000054.7
p.L118V
c.352C>G
4 papers
NM_000054.7
p.K116N
c.348G>C
4 papers
NM_000054.7
p.K116N
c.348G>T
2 papers
NM_000054.7
p.K116R
c.347A>G
1 paper
NM_000054.7
p.L118Q
c.353T>A
1 paper
NM_000054.7
p.L118P
c.353T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."