Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.H70R

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.H70R
c.209A>G
Surrounding Variants
1 paper
NM_000054.7
p.H70P
c.209A>C
1 paper
NM_000054.7
p.H70L
c.209A>T
1 paper
NM_000054.7
p.H70N
c.208C>A
1 paper
NM_000054.7
p.H70Q
c.210C>A
1 paper
NM_000054.7
p.H70D
c.208C>G
1 paper
NM_000054.7
p.H70Q
c.210C>G
1 paper
NM_000054.7
p.W71R
c.211T>A
1 paper
NM_000054.7
p.W71R
c.211T>C
1 paper
NM_000054.7
p.W71G
c.211T>G
22 papers
NM_000054.7
p.W71*
c.212G>A
2 papers
NM_000054.7
p.G69D
c.206G>A
1 paper
NM_000054.7
p.G69A
c.206G>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."