Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.M133T

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.M133T
c.398T>C
Surrounding Variants
1 paper
NM_000054.7
p.M133K
c.398T>A
1 paper
NM_000054.7
p.M133R
c.398T>G
1 paper
NM_000054.7
p.M133I
c.399G>A
1 paper
NM_000054.7
p.M133I
c.399G>C
1 paper
NM_000054.7
p.M133I
c.399G>T
1 paper
NM_000054.7
p.T134P
c.400A>C
17 papers
NM_000054.7
p.A132D
c.395C>A
1 paper
NM_000054.7
p.T134K
c.401C>A
1 paper
NM_000054.7
p.T134R
c.401C>G
1 paper
NM_000054.7
p.T134M
c.401C>T
1 paper
NM_000054.7
p.A132P
c.394G>C
2 papers
NM_000054.7
p.L135_D136del2
c.403_407del6
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