Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L135P

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
5 papers
NM_000054.7
p.L135P
c.404T>C
Surrounding Variants
2 papers
NM_000054.7
p.D136fs
c.406_407fs
1 paper
NM_000054.7
p.D136Y
c.406G>T
2 papers
NM_000054.7
p.L135_D136del2
c.403_407del6
13 papers
NM_000054.7
p.D136A
c.407A>C
1 paper
NM_000054.7
p.D136G
c.407A>G
1 paper
NM_000054.7
p.D136V
c.407A>T
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.T134P
c.400A>C
1 paper
NM_000054.7
p.D136D
c.408C>T
1 paper
NM_000054.7
p.R137S
c.409C>A
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