Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S331C

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.S331C
c.991A>T
Surrounding Variants
1 paper
NM_000054.7
p.S331fs
c.991_992fs
1 paper
NM_000054.7
p.S331_V332del2
c.991_995del6
1 paper
NM_000054.7
p.S331S
c.993C>T
1 paper
NM_000054.7
p.S330_S331insFs
c.990_993dup4
1 paper
NM_000054.7
p.S330C
c.988A>T
1 paper
NM_000054.7
p.V332M
c.994G>A
14 papers
NM_000054.7
p.S329R
c.987C>A
14 papers
NM_000054.7
p.S329R
c.987C>G
2 papers
NM_000054.7
p.V332E
c.995T>A
1 paper
NM_000054.7
p.V332A
c.995T>C
1 paper
NM_000054.7
p.V332G
c.995T>G
6 papers
NM_000054.7
p.S333del1
c.997_998delTCC
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."