Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A63P

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.A63P
c.187G>C
Surrounding Variants
1 paper
NM_000054.7
p.A63T
c.187G>A
1 paper
NM_000054.7
p.A63S
c.187G>T
1 paper
NM_000054.7
p.A63D
c.188C>A
1 paper
NM_000054.7
p.A63G
c.188C>G
1 paper
NM_000054.7
p.A63V
c.188C>T
1 paper
NM_000054.7
p.L62Q
c.185T>A
23 papers
NM_000054.7
p.L62P
c.185T>C
1 paper
NM_000054.7
p.L62R
c.185T>G
1 paper
NM_000054.7
p.L62I
c.184C>A
1 paper
NM_000054.7
p.L62V
c.184C>G
1 paper
NM_000054.7
p.R64G
c.190C>G
5 papers
NM_000054.7
p.R64W
c.190C>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."