Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.P108Q

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
2 papers
NM_000054.7
p.P108Q
c.323C>A
Surrounding Variants
1 paper
NM_000054.7
p.P108R
c.323C>G
1 paper
NM_000054.7
p.P108L
c.323C>T
1 paper
NM_000054.7
p.P108T
c.322C>A
1 paper
NM_000054.7
p.P108A
c.322C>G
1 paper
NM_000054.7
p.P108S
c.322C>T
1 paper
NM_000054.7
p.D109H
c.325G>C
1 paper
NM_000054.7
p.D109Y
c.325G>T
1 paper
NM_000054.7
p.D109A
c.326A>C
1 paper
NM_000054.7
p.D109G
c.326A>G
1 paper
NM_000054.7
p.D109V
c.326A>T
13 papers
NM_000054.7
p.G107E
c.320G>A
1 paper
NM_000054.7
p.G107A
c.320G>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."