Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A140T

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
4 papers
NM_000054.7
p.A140T
c.418G>A
Surrounding Variants
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
1 paper
NM_000054.7
p.H138N
c.412C>A
2 papers
NM_000054.7
p.C142F
c.425G>T
1 paper
NM_000054.7
p.C142*
c.426C>A
3 papers
NM_000054.7
p.C142W
c.426C>G
100 papers
NM_000054.7
p.R137H
c.410G>A
1 paper
NM_000054.7
p.R137P
c.410G>C
52 papers
NM_000054.7
p.R137L
c.410G>T
1 paper
NM_000054.7
p.H138_R139del1
c.413_415delACC
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