Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S21I

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.S21I
c.62G>T
Surrounding Variants
1 paper
NM_000054.7
p.S21N
c.62G>A
1 paper
NM_000054.7
p.S21T
c.62G>C
1 paper
NM_000054.7
p.S21R
c.61A>C
3 papers
NM_000054.7
p.S21G
c.61A>G
1 paper
NM_000054.7
p.S21C
c.61A>T
1 paper
NM_000054.7
p.S21R
c.63C>A
1 paper
NM_000054.7
p.S21R
c.63C>G
1 paper
NM_000054.7
p.S21S
c.63C>T
1 paper
NM_000054.7
p.N22H
c.64A>C
1 paper
NM_000054.7
p.N22D
c.64A>G
1 paper
NM_000054.7
p.N22Y
c.64A>T
1 paper
NM_000054.7
p.P20P
c.60C>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."