Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.E40*

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.E40*
c.118G>T
Surrounding Variants
1 paper
NM_000054.7
p.E40K
c.118G>A
1 paper
NM_000054.7
p.E40Q
c.118G>C
1 paper
NM_000054.7
p.E40A
c.119A>C
1 paper
NM_000054.7
p.E40G
c.119A>G
1 paper
NM_000054.7
p.E40V
c.119A>T
2 papers
NM_000054.7
p.A39A
c.117G>A
1 paper
NM_000054.7
p.A39E
c.116C>A
1 paper
NM_000054.7
p.A39G
c.116C>G
1 paper
NM_000054.7
p.A39V
c.116C>T
1 paper
NM_000054.7
p.E40D
c.120G>C
1 paper
NM_000054.7
p.E40D
c.120G>T
1 paper
NM_000054.7
p.L41M
c.121C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."