Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.C192S

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
5 papers
NM_000054.7
p.C192S
c.574T>A
Surrounding Variants
5 papers
NM_000054.7
p.C192R
c.574T>C
1 paper
NM_000054.7
p.C192G
c.574T>G
5 papers
NM_000054.7
p.C192S
c.575G>C
7 papers
NM_000054.7
p.D191G
c.572A>G
1 paper
NM_000054.7
p.C192*
c.576C>A
10 papers
NM_000054.7
p.W193*
c.578G>A
1 paper
NM_000054.7
p.T190T
c.570T>A
1 paper
NM_000054.7
p.T190insFs
c.570dupT
10 papers
NM_000054.7
p.W193*
c.579G>A
1 paper
NM_000054.7
p.W193C
c.579G>C
1 paper
NM_000054.7
p.W193C
c.579G>T
1 paper
NM_000054.7
p.T190insFs
c.568_569insC
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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."