Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L29R

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.L29R
c.86T>G
Surrounding Variants
1 paper
NM_000054.7
p.L29Q
c.86T>A
1 paper
NM_000054.7
p.L29P
c.86T>C
1 paper
NM_000054.7
p.L29M
c.85C>A
1 paper
NM_000054.7
p.L29V
c.85C>G
1 paper
NM_000054.7
p.P28P
c.84A>G
1 paper
NM_000054.7
p.P28P
c.84A>T
1 paper
NM_000054.7
p.L29delFs
c.85delC
1 paper
NM_000054.7
p.D30N
c.88G>A
1 paper
NM_000054.7
p.D30H
c.88G>C
1 paper
NM_000054.7
p.D30Y
c.88G>T
3 papers
NM_000054.7
p.D30delFs
c.89_90delAC
1 paper
NM_000054.7
p.D30A
c.89A>C
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