Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A154D

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.A154D
c.461C>A
Surrounding Variants
1 paper
NM_000054.7
p.G153E
c.458G>A
2 papers
NM_000054.7
p.G153delFs
c.458delG
8 papers
NM_000054.7
p.W156*
c.467G>A
1 paper
NM_000054.7
p.S152R
c.454A>C
6 papers
NM_000054.7
p.W156*
c.468G>A
1 paper
NM_000054.7
p.W156C
c.468G>C
1 paper
NM_000054.7
p.W156C
c.468G>T
1 paper
NM_000054.7
p.G151E
c.452G>A
1 paper
NM_000054.7
p.G151R
c.451G>A
1 paper
NM_000054.7
p.G151R
c.451G>C
1 paper
NM_000054.7
p.G151*
c.451G>T
1 paper
NM_000054.7
p.R158W
c.472C>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."