Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2

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
1–12 of 1418 variants
100 papers
NM_000054.7
p.R137H
c.410G>A
62 papers
NM_000054.7
p.R137C
c.409C>T
58 papers
NM_000054.7
p.R337*
c.1009C>T
52 papers
NM_000054.7
p.R137L
c.410G>T
52 papers
NM_000054.7
p.R202C
c.604C>T
50 papers
NM_000054.7
p.R181C
c.541C>T
47 papers
NM_000054.7
p.R113W
c.337C>T
47 papers
NM_000054.7
p.Y128S
c.383A>C
47 papers
NM_000054.7
p.S167L
c.500C>T
46 papers
NM_000054.7
p.D85N
c.253G>A
41 papers
NM_000054.7
p.V88M
c.262G>A
41 papers
NM_000054.7
p.P322S
c.964C>T
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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."