Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A60T

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.A60T
c.178G>A
Surrounding Variants
1 paper
NM_000054.7
p.A60P
c.178G>C
1 paper
NM_000054.7
p.A60S
c.178G>T
1 paper
NM_000054.7
p.A60E
c.179C>A
1 paper
NM_000054.7
p.A60G
c.179C>G
1 paper
NM_000054.7
p.A60V
c.179C>T
1 paper
NM_000054.7
p.L59Q
c.176T>A
14 papers
NM_000054.7
p.L59P
c.176T>C
1 paper
NM_000054.7
p.L59R
c.176T>G
1 paper
NM_000054.7
p.L59M
c.175C>A
1 paper
NM_000054.7
p.L59V
c.175C>G
2 papers
NM_000054.7
p.A61T
c.181G>A
1 paper
NM_000054.7
p.A61P
c.181G>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."