Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.W296*

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
5 papers
NM_000054.7
p.W296*
c.887G>A
Surrounding Variants
1 paper
NM_000054.7
p.W296L
c.887G>T
5 papers
NM_000054.7
p.W296*
c.888G>A
1 paper
NM_000054.7
p.W296C
c.888G>C
1 paper
NM_000054.7
p.W296C
c.888G>T
2 papers
NM_000054.7
p.W296R
c.886T>A
2 papers
NM_000054.7
p.W296R
c.886T>C
1 paper
NM_000054.7
p.W296G
c.886T>G
1 paper
NM_000054.7
p.W296delFs
c.888delG
1 paper
NM_000054.7
p.D297Y
c.889G>T
1 paper
NM_000054.7
p.A295V
c.884C>T
2 papers
NM_000054.7
p.D297E
c.891C>A
2 papers
NM_000054.7
p.D297E
c.891C>G
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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."