Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.C283Y

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
4 papers
NM_000054.7
p.C283Y
c.848G>A
Surrounding Variants
2 papers
NM_000054.7
p.C283*
c.849C>A
11 papers
NM_000054.7
p.W284*
c.851G>A
6 papers
NM_000054.7
p.L282P
c.845T>C
11 papers
NM_000054.7
p.W284*
c.852G>A
1 paper
NM_000054.7
p.A285_P286insFs
c.855_856ins4
9 papers
NM_000054.7
p.A285P
c.853G>C
1 paper
NM_000054.7
p.V281V
c.843G>C
1 paper
NM_000054.7
p.V281L
c.841G>C
1 paper
NM_000054.7
p.V281L
c.841G>T
2 papers
NM_000054.7
p.P286insFs
c.856_857ins4
5 papers
NM_000054.7
p.P286S
c.856C>T
1 paper
NM_000054.7
p.Y280*
c.840T>A
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