Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.G185S

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
2 papers
NM_000054.7
p.G185S
c.553G>A
Surrounding Variants
33 papers
NM_000054.7
p.G185C
c.553G>T
1 paper
NM_000054.7
p.E184D
c.552A>C
2 papers
NM_000054.7
p.G185_W193del9
c.553_578del27
1 paper
NM_000054.7
p.E184A
c.551A>C
1 paper
NM_000054.7
p.E184K
c.550G>A
1 paper
NM_000054.7
p.E184*
c.550G>T
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.V183A
c.548T>C
6 papers
NM_000054.7
p.S187R
c.559A>C
1 paper
NM_000054.7
p.S187C
c.559A>T
2 papers
NM_000054.7
p.V183M
c.547G>A
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