Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R251G

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.R251G
c.751C>G
Surrounding Variants
1 paper
NM_000054.7
p.R251C
c.751C>T
1 paper
NM_000054.7
p.R251_A260delFs
c.752_780del29
4 papers
NM_000054.7
p.R251_R252insFs
c.753_754insC
5 papers
NM_000054.7
p.G250E
c.749G>A
5 papers
NM_000054.7
p.R252W
c.754C>T
1 paper
NM_000054.7
p.G250*
c.748G>T
1 paper
NM_000054.7
p.R252Q
c.755G>A
1 paper
NM_000054.7
p.T253_G254ins9
c.757_761ins27
1 paper
NM_000054.7
p.G254_V262del9
c.760_785del27
2 papers
NM_000054.7
p.R248H
c.743G>A
3 papers
NM_000054.7
p.R248C
c.742C>T
1 paper
NM_000054.7
p.G254C
c.760G>T
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