Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.W200C

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.W200C
c.600G>C
Surrounding Variants
12 papers
NM_000054.7
p.W200*
c.600G>A
1 paper
NM_000054.7
p.W200C
c.600G>T
13 papers
NM_000054.7
p.W200*
c.599G>A
1 paper
NM_000054.7
p.G201C
c.601G>T
31 papers
NM_000054.7
p.G201D
c.602G>A
3 papers
NM_000054.7
p.W200R
c.598T>A
3 papers
NM_000054.7
p.W200R
c.598T>C
2 papers
NM_000054.7
p.R202_R203del1
c.606_608delTCG
1 paper
NM_000054.7
p.R202S
c.604C>A
52 papers
NM_000054.7
p.R202C
c.604C>T
1 paper
NM_000054.7
p.P199S
c.595C>T
1 paper
NM_000054.7
p.R202H
c.605G>A
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