Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.V76D

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.V76D
c.227T>A
Surrounding Variants
1 paper
NM_000054.7
p.V76A
c.227T>C
1 paper
NM_000054.7
p.V76G
c.227T>G
1 paper
NM_000054.7
p.V76L
c.226G>C
1 paper
NM_000054.7
p.F77del1
c.229_230delTTC
1 paper
NM_000054.7
p.H75Q
c.225C>A
1 paper
NM_000054.7
p.H75Q
c.225C>G
1 paper
NM_000054.7
p.F77I
c.229T>A
1 paper
NM_000054.7
p.F77L
c.229T>C
2 papers
NM_000054.7
p.F77V
c.229T>G
1 paper
NM_000054.7
p.H75P
c.224A>C
1 paper
NM_000054.7
p.H75R
c.224A>G
1 paper
NM_000054.7
p.H75L
c.224A>T
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