Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.M120K

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
5 papers
NM_000054.7
p.M120K
c.359T>A
Surrounding Variants
1 paper
NM_000054.7
p.M120T
c.359T>C
1 paper
NM_000054.7
p.M120R
c.359T>G
1 paper
NM_000054.7
p.M120L
c.358A>C
4 papers
NM_000054.7
p.M120V
c.358A>G
1 paper
NM_000054.7
p.M120L
c.358A>T
1 paper
NM_000054.7
p.V121M
c.361G>A
3 papers
NM_000054.7
p.Q119H
c.357G>C
1 paper
NM_000054.7
p.V121L
c.361G>C
3 papers
NM_000054.7
p.Q119H
c.357G>T
1 paper
NM_000054.7
p.V121L
c.361G>T
1 paper
NM_000054.7
p.Q119R
c.356A>G
1 paper
NM_000054.7
p.Q119L
c.356A>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."