Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.W323delFs

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.W323delFs
c.969delG
Surrounding Variants
9 papers
NM_000054.7
p.W323R
c.967T>A
9 papers
NM_000054.7
p.W323R
c.967T>C
7 papers
NM_000054.7
p.W323*
c.968G>A
6 papers
NM_000054.7
p.W323S
c.968G>C
21 papers
NM_000054.7
p.P322H
c.965C>A
4 papers
NM_000054.7
p.P322L
c.965C>T
6 papers
NM_000054.7
p.W323*
c.969G>A
1 paper
NM_000054.7
p.P322T
c.964C>A
41 papers
NM_000054.7
p.P322S
c.964C>T
11 papers
NM_000054.7
p.N321K
c.963C>A
11 papers
NM_000054.7
p.N321K
c.963C>G
2 papers
NM_000054.7
p.N321N
c.963C>T
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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."