Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.M129R

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.M129R
c.386T>G
Surrounding Variants
1 paper
NM_000054.7
p.M129K
c.386T>A
1 paper
NM_000054.7
p.M129I
c.387G>A
1 paper
NM_000054.7
p.M129I
c.387G>C
1 paper
NM_000054.7
p.M129I
c.387G>T
5 papers
NM_000054.7
p.I130L
c.388A>C
17 papers
NM_000054.7
p.I130F
c.388A>T
1 paper
NM_000054.7
p.Y128*
c.384C>A
1 paper
NM_000054.7
p.Y128*
c.384C>G
47 papers
NM_000054.7
p.Y128S
c.383A>C
1 paper
NM_000054.7
p.Y128F
c.383A>T
20 papers
NM_000054.7
p.I130N
c.389T>A
1 paper
NM_000054.7
p.I130T
c.389T>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."