Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.G79A

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.G79A
c.236G>C
Surrounding Variants
1 paper
NM_000054.7
p.G79D
c.236G>A
1 paper
NM_000054.7
p.G79V
c.236G>T
1 paper
NM_000054.7
p.G79S
c.235G>A
1 paper
NM_000054.7
p.G79R
c.235G>C
1 paper
NM_000054.7
p.G79C
c.235G>T
1 paper
NM_000054.7
p.H80N
c.238C>A
2 papers
NM_000054.7
p.H80Y
c.238C>T
1 paper
NM_000054.7
p.I78M
c.234T>G
1 paper
NM_000054.7
p.H80P
c.239A>C
11 papers
NM_000054.7
p.H80R
c.239A>G
1 paper
NM_000054.7
p.H80L
c.239A>T
1 paper
NM_000054.7
p.I78N
c.233T>A
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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."