Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S171R

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
3 papers
NM_000054.7
p.S171R
c.513C>A
Surrounding Variants
3 papers
NM_000054.7
p.S171R
c.513C>G
3 papers
NM_000054.7
p.S171R
c.511A>C
1 paper
NM_000054.7
p.S171fs
c.511_512fs
6 papers
NM_000054.7
p.P173S
c.517C>T
4 papers
NM_000054.7
p.L170P
c.509T>C
1 paper
NM_000054.7
p.L170V
c.508C>G
5 papers
NM_000054.7
p.P173L
c.518C>T
2 papers
NM_000054.7
p.Q174*
c.520C>T
1 paper
NM_000054.7
p.Q174delFs
c.521delA
4 papers
NM_000054.7
p.L169P
c.506T>C
3 papers
NM_000054.7
p.Q174P
c.521A>C
10 papers
NM_000054.7
p.Q174R
c.521A>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."