Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.C142F

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
2 papers
NM_000054.7
p.C142F
c.425G>T
Surrounding Variants
1 paper
NM_000054.7
p.C142*
c.426C>A
3 papers
NM_000054.7
p.C142W
c.426C>G
2 papers
NM_000054.7
p.R143G
c.427C>G
2 papers
NM_000054.7
p.R143C
c.427C>T
2 papers
NM_000054.7
p.R143H
c.428G>A
17 papers
NM_000054.7
p.R143P
c.428G>C
1 paper
NM_000054.7
p.P144H
c.431C>A
4 papers
NM_000054.7
p.A140T
c.418G>A
5 papers
NM_000054.7
p.R139H
c.416G>A
3 papers
NM_000054.7
p.R139S
c.415C>A
1 paper
NM_000054.7
p.R139C
c.415C>T
1 paper
NM_000054.7
p.H138_A140delFs
c.414_418del5
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