Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.G56S

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.G56S
c.166G>A
Surrounding Variants
1 paper
NM_000054.7
p.G56R
c.166G>C
1 paper
NM_000054.7
p.G56C
c.166G>T
1 paper
NM_000054.7
p.G56D
c.167G>A
1 paper
NM_000054.7
p.G56A
c.167G>C
1 paper
NM_000054.7
p.G56V
c.167G>T
1 paper
NM_000054.7
p.N55K
c.165T>A
1 paper
NM_000054.7
p.N55K
c.165T>G
1 paper
NM_000054.7
p.N55T
c.164A>C
1 paper
NM_000054.7
p.N55S
c.164A>G
1 paper
NM_000054.7
p.N55I
c.164A>T
5 papers
NM_000054.7
p.N55H
c.163A>C
6 papers
NM_000054.7
p.N55D
c.163A>G
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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."