Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R113Q

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.R113Q
c.338G>A
Surrounding Variants
1 paper
NM_000054.7
p.R113P
c.338G>C
1 paper
NM_000054.7
p.R113L
c.338G>T
1 paper
NM_000054.7
p.R113G
c.337C>G
47 papers
NM_000054.7
p.R113W
c.337C>T
2 papers
NM_000054.7
p.R113delFs
c.338delG
1 paper
NM_000054.7
p.A114T
c.340G>A
1 paper
NM_000054.7
p.A114P
c.340G>C
1 paper
NM_000054.7
p.A114S
c.340G>T
1 paper
NM_000054.7
p.C112*
c.336T>A
1 paper
NM_000054.7
p.C112W
c.336T>G
1 paper
NM_000054.7
p.A114D
c.341C>A
1 paper
NM_000054.7
p.A114G
c.341C>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."