Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A52G

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.A52G
c.155C>G
Surrounding Variants
1 paper
NM_000054.7
p.A52D
c.155C>A
1 paper
NM_000054.7
p.A52V
c.155C>T
1 paper
NM_000054.7
p.A52T
c.154G>A
1 paper
NM_000054.7
p.A52P
c.154G>C
1 paper
NM_000054.7
p.A52S
c.154G>T
1 paper
NM_000054.7
p.L53delFs
c.157delC
1 paper
NM_000054.7
p.L53M
c.157C>A
1 paper
NM_000054.7
p.L53V
c.157C>G
1 paper
NM_000054.7
p.V51V
c.153G>C
1 paper
NM_000054.7
p.V51E
c.152T>A
1 paper
NM_000054.7
p.L53Q
c.158T>A
1 paper
NM_000054.7
p.V51A
c.152T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."