Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.V290G

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.V290G
c.869T>G
Surrounding Variants
2 papers
NM_000054.7
p.Q291P
c.872A>C
4 papers
NM_000054.7
p.L289P
c.866T>C
2 papers
NM_000054.7
p.L292insFs
c.874_875insG
24 papers
NM_000054.7
p.L292P
c.875T>C
1 paper
NM_000054.7
p.L292R
c.875T>G
10 papers
NM_000054.7
p.F287L
c.861C>A
11 papers
NM_000054.7
p.F287L
c.861C>G
2 papers
NM_000054.7
p.F287F
c.861C>T
1 paper
NM_000054.7
p.W293R
c.877T>A
1 paper
NM_000054.7
p.W293R
c.877T>C
3 papers
NM_000054.7
p.W293G
c.877T>G
15 papers
NM_000054.7
p.W293*
c.878G>A
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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."