Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.V88E

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.V88E
c.263T>A
Surrounding Variants
2 papers
NM_000054.7
p.V88A
c.263T>C
1 paper
NM_000054.7
p.V88G
c.263T>G
41 papers
NM_000054.7
p.V88M
c.262G>A
2 papers
NM_000054.7
p.V88V
c.264G>A
5 papers
NM_000054.7
p.V88L
c.262G>C
5 papers
NM_000054.7
p.V88L
c.262G>T
2 papers
NM_000054.7
p.A89T
c.265G>A
5 papers
NM_000054.7
p.A89P
c.265G>C
1 paper
NM_000054.7
p.A89S
c.265G>T
2 papers
NM_000054.7
p.L90delFs
c.268_269delCT
1 paper
NM_000054.7
p.A87D
c.260C>A
1 paper
NM_000054.7
p.A87G
c.260C>G
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