Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L83V

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.L83V
c.247C>G
Surrounding Variants
1 paper
NM_000054.7
p.L83insFs
c.247_248ins8
1 paper
NM_000054.7
p.C82W
c.246C>G
15 papers
NM_000054.7
p.L83Q
c.248T>A
11 papers
NM_000054.7
p.L83P
c.248T>C
1 paper
NM_000054.7
p.L83R
c.248T>G
2 papers
NM_000054.7
p.C82Y
c.245G>A
1 paper
NM_000054.7
p.C82S
c.245G>C
1 paper
NM_000054.7
p.C82F
c.245G>T
1 paper
NM_000054.7
p.D85_V88del0
c.254_262del9
1 paper
NM_000054.7
p.A84T
c.250G>A
1 paper
NM_000054.7
p.A84P
c.250G>C
1 paper
NM_000054.7
p.A84S
c.250G>T
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