Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.Q225H

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
2 papers
NM_000054.7
p.Q225H
c.675G>C
Surrounding Variants
3 papers
NM_000054.7
p.Q225R
c.674A>G
12 papers
NM_000054.7
p.Q225*
c.673C>T
5 papers
NM_000054.7
p.V226E
c.677T>A
1 paper
NM_000054.7
p.V226A
c.677T>C
1 paper
NM_000054.7
p.C224*
c.672C>A
1 paper
NM_000054.7
p.I228insFs
c.682_683insC
1 paper
NM_000054.7
p.A223T
c.667G>A
25 papers
NM_000054.7
p.F229V
c.685T>G
1 paper
NM_000054.7
p.A222T
c.664G>A
1 paper
NM_000054.7
p.F229C
c.686T>G
2 papers
NM_000054.7
p.R230W
c.688C>T
1 paper
NM_000054.7
p.E231delFs
c.691delG
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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."