Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R32L

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.R32L
c.95G>T
Surrounding Variants
1 paper
NM_000054.7
p.R32Q
c.95G>A
1 paper
NM_000054.7
p.R32P
c.95G>C
1 paper
NM_000054.7
p.R32G
c.94C>G
1 paper
NM_000054.7
p.R32W
c.94C>T
2 papers
NM_000054.7
p.R32_D33insFs
c.96_97insT
2 papers
NM_000054.7
p.T31_R32insFs
c.93_94insT
1 paper
NM_000054.7
p.D33N
c.97G>A
1 paper
NM_000054.7
p.D33H
c.97G>C
1 paper
NM_000054.7
p.D33_A42insFs
c.98_125dup28
1 paper
NM_000054.7
p.D33Y
c.97G>T
1 paper
NM_000054.7
p.D33A
c.98A>C
1 paper
NM_000054.7
p.D33G
c.98A>G
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