Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.P34L

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.P34L
c.101C>T
Surrounding Variants
1 paper
NM_000054.7
p.P34Q
c.101C>A
4 papers
NM_000054.7
p.P34R
c.101C>G
1 paper
NM_000054.7
p.P34delFs
c.102delG
1 paper
NM_000054.7
p.P34T
c.100C>A
1 paper
NM_000054.7
p.P34A
c.100C>G
1 paper
NM_000054.7
p.P34S
c.100C>T
1 paper
NM_000054.7
p.L35delFs
c.103delC
1 paper
NM_000054.7
p.D33E
c.99C>A
1 paper
NM_000054.7
p.L35M
c.103C>A
1 paper
NM_000054.7
p.L35fs
c.103_104fs
1 paper
NM_000054.7
p.D33E
c.99C>G
1 paper
NM_000054.7
p.L35V
c.103C>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."