Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.M123T

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.M123T
c.368T>C
Surrounding Variants
8 papers
NM_000054.7
p.M123K
c.368T>A
3 papers
NM_000054.7
p.M123R
c.368T>G
1 paper
NM_000054.7
p.M123L
c.367A>C
1 paper
NM_000054.7
p.M123V
c.367A>G
1 paper
NM_000054.7
p.M123L
c.367A>T
1 paper
NM_000054.7
p.M123delFs
c.368delT
1 paper
NM_000054.7
p.M123_Y124insFs
c.369_370insT
1 paper
NM_000054.7
p.Y124H
c.370T>C
2 papers
NM_000054.7
p.Y124C
c.371A>G
5 papers
NM_000054.7
p.G122D
c.365G>A
1 paper
NM_000054.7
p.G122A
c.365G>C
1 paper
NM_000054.7
p.G122V
c.365G>T
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