Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A179P

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.A179P
c.535G>C
Surrounding Variants
1 paper
NM_000054.7
p.F178L
c.534C>A
1 paper
NM_000054.7
p.F178L
c.534C>G
5 papers
NM_000054.7
p.Q180*
c.538C>T
1 paper
NM_000054.7
p.F178I
c.532T>A
1 paper
NM_000054.7
p.F178L
c.532T>C
2 papers
NM_000054.7
p.I177N
c.530T>A
1 paper
NM_000054.7
p.R181_N182insT
c.541_545ins3
2 papers
NM_000054.7
p.R181insFs
c.541_542insT
50 papers
NM_000054.7
p.R181C
c.541C>T
1 paper
NM_000054.7
p.R181H
c.542G>A
1 paper
NM_000054.7
p.I177del1
c.529_531delATC
3 papers
NM_000054.7
p.F176del1
c.526_527delTTC
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