Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L292P

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
24 papers
NM_000054.7
p.L292P
c.875T>C
Surrounding Variants
1 paper
NM_000054.7
p.L292R
c.875T>G
2 papers
NM_000054.7
p.L292insFs
c.874_875insG
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
2 papers
NM_000054.7
p.Q291P
c.872A>C
15 papers
NM_000054.7
p.W293*
c.878G>A
15 papers
NM_000054.7
p.W293*
c.879G>A
18 papers
NM_000054.7
p.A294P
c.880G>C
1 paper
NM_000054.7
p.A294fs
c.880_881fs
3 papers
NM_000054.7
p.V290G
c.869T>G
2 papers
NM_000054.7
p.A295P
c.883G>C
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