Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S126C

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.S126C
c.377C>G
Surrounding Variants
1 paper
NM_000054.7
p.S126Y
c.377C>A
10 papers
NM_000054.7
p.S126F
c.377C>T
1 paper
NM_000054.7
p.S126T
c.376T>A
1 paper
NM_000054.7
p.S126P
c.376T>C
1 paper
NM_000054.7
p.S127T
c.379T>A
1 paper
NM_000054.7
p.S127P
c.379T>C
1 paper
NM_000054.7
p.S127A
c.379T>G
2 papers
NM_000054.7
p.S127Y
c.380C>A
1 paper
NM_000054.7
p.A125D
c.374C>A
1 paper
NM_000054.7
p.A125G
c.374C>G
1 paper
NM_000054.7
p.S127C
c.380C>G
5 papers
NM_000054.7
p.S127F
c.380C>T
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