Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.V281_L282delFs

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.V281_L282delFs
c.842_846del5
Surrounding Variants
1 paper
NM_000054.7
p.Y280insFs
c.839_840insT
1 paper
NM_000054.7
p.W284insFs
c.851_852ins5
22 papers
NM_000054.7
p.Y280C
c.839A>G
1 paper
NM_000054.7
p.Y280F
c.839A>T
1 paper
NM_000054.7
p.Y280*
c.840T>A
1 paper
NM_000054.7
p.Y280*
c.840T>G
1 paper
NM_000054.7
p.Y280insFs
c.838_839insT
1 paper
NM_000054.7
p.V281L
c.841G>C
1 paper
NM_000054.7
p.V281L
c.841G>T
1 paper
NM_000054.7
p.V279I
c.835G>A
1 paper
NM_000054.7
p.V281V
c.843G>C
6 papers
NM_000054.7
p.L282P
c.845T>C
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