Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L170V

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.L170V
c.508C>G
Surrounding Variants
4 papers
NM_000054.7
p.L170P
c.509T>C
4 papers
NM_000054.7
p.L169P
c.506T>C
3 papers
NM_000054.7
p.S171R
c.511A>C
1 paper
NM_000054.7
p.S171fs
c.511_512fs
3 papers
NM_000054.7
p.S171R
c.513C>A
3 papers
NM_000054.7
p.S171R
c.513C>G
1 paper
NM_000054.7
p.L168R
c.503T>G
2 papers
NM_000054.7
p.S167_L168insFs
c.501_502insC
6 papers
NM_000054.7
p.S167*
c.500C>A
3 papers
NM_000054.7
p.S167W
c.500C>G
47 papers
NM_000054.7
p.S167L
c.500C>T
6 papers
NM_000054.7
p.P173S
c.517C>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."