Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A326insFs

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.A326insFs
c.977dupC
Surrounding Variants
1 paper
NM_000054.7
p.A326S
c.976G>T
1 paper
NM_000054.7
p.A326E
c.977C>A
3 papers
NM_000054.7
p.Y325*
c.975T>A
3 papers
NM_000054.7
p.Y325*
c.975T>G
3 papers
NM_000054.7
p.Y325F
c.974A>T
1 paper
NM_000054.7
p.Y325_S331delFs
c.975_991del17
1 paper
NM_000054.7
p.S327fs
c.979_980fs
1 paper
NM_000054.7
p.I324I
c.972C>A
4 papers
NM_000054.7
p.I324M
c.972C>G
1 paper
NM_000054.7
p.I324N
c.971T>A
6 papers
NM_000054.7
p.W323*
c.969G>A
7 papers
NM_000054.7
p.W323*
c.968G>A
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