Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R158Q

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.R158Q
c.473G>A
Surrounding Variants
1 paper
NM_000054.7
p.R158W
c.472C>T
1 paper
NM_000054.7
p.P159delFs
c.475delC
1 paper
NM_000054.7
p.P159S
c.475C>T
1 paper
NM_000054.7
p.P159L
c.476C>T
6 papers
NM_000054.7
p.W156*
c.468G>A
1 paper
NM_000054.7
p.W156C
c.468G>C
1 paper
NM_000054.7
p.W156C
c.468G>T
8 papers
NM_000054.7
p.W156*
c.467G>A
5 papers
NM_000054.7
p.L161P
c.482T>C
2 papers
NM_000054.7
p.L161_V162insFs
c.483_484insA
1 paper
NM_000054.7
p.L161_V162insFs
c.483_484insAC
1 paper
NM_000054.7
p.V162M
c.484G>A
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