Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.G245A

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.G245A
c.734G>C
Surrounding Variants
1 paper
NM_000054.7
p.G245fs
c.733_734fs
4 papers
NM_000054.7
p.G246insFs
c.738dupG
2 papers
NM_000054.7
p.G246delFs
c.738delG
1 paper
NM_000054.7
p.R247fs
c.739_740fs
1 paper
NM_000054.7
p.R247_R248ins8
c.739_743ins24
2 papers
NM_000054.7
p.R247C
c.739C>T
2 papers
NM_000054.7
p.R247fs
c.739_740fs
4 papers
NM_000054.7
p.R247H
c.740G>A
1 paper
NM_000054.7
p.R248delFs
c.742delC
1 paper
NM_000054.7
p.R247R
c.741C>T
3 papers
NM_000054.7
p.R248C
c.742C>T
1 paper
NM_000054.7
p.E242A
c.725A>C
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