Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.P144H

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.P144H
c.431C>A
Surrounding Variants
2 papers
NM_000054.7
p.R143H
c.428G>A
17 papers
NM_000054.7
p.R143P
c.428G>C
2 papers
NM_000054.7
p.R143G
c.427C>G
2 papers
NM_000054.7
p.R143C
c.427C>T
1 paper
NM_000054.7
p.C142*
c.426C>A
3 papers
NM_000054.7
p.C142W
c.426C>G
2 papers
NM_000054.7
p.C142F
c.425G>T
6 papers
NM_000054.7
p.A147T
c.439G>A
8 papers
NM_000054.7
p.A147V
c.440C>T
1 paper
NM_000054.7
p.A147A
c.441G>A
1 paper
NM_000054.7
p.Y148insFs
c.442_443insG
1 paper
NM_000054.7
p.Y148C
c.443A>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."