Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.G188R

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.G188R
c.562G>C
Surrounding Variants
6 papers
NM_000054.7
p.S187R
c.561C>A
6 papers
NM_000054.7
p.S187R
c.561C>G
6 papers
NM_000054.7
p.S187R
c.559A>C
1 paper
NM_000054.7
p.S187C
c.559A>T
1 paper
NM_000054.7
p.V189_T190insFs
c.567_568insC
1 paper
NM_000054.7
p.T190delFs
c.568_569delAC
1 paper
NM_000054.7
p.G186D
c.557G>A
1 paper
NM_000054.7
p.G186A
c.557G>C
1 paper
NM_000054.7
p.T190insFs
c.568_569insC
1 paper
NM_000054.7
p.T190insFs
c.570dupT
1 paper
NM_000054.7
p.T190T
c.570T>A
2 papers
NM_000054.7
p.G185S
c.553G>A
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