Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.P301R

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.P301R
c.902C>G
Surrounding Variants
2 papers
NM_000054.7
p.P301L
c.902C>T
1 paper
NM_000054.7
p.L302V
c.904C>G
2 papers
NM_000054.7
p.A300E
c.899C>A
1 paper
NM_000054.7
p.L302P
c.905T>C
1 paper
NM_000054.7
p.E303delFs
c.907delG
1 paper
NM_000054.7
p.E303*
c.907G>T
2 papers
NM_000054.7
p.E303insFs
c.908_909insT
1 paper
NM_000054.7
p.E303E
c.909A>G
2 papers
NM_000054.7
p.E299_A300insA
c.895_899ins3
1 paper
NM_000054.7
p.E299*
c.895G>T
1 paper
NM_000054.7
p.P298L
c.893C>T
1 paper
NM_000054.7
p.G304Splc
c.910+1G>A
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