Varaico: Literature-Extracted Genetic Variants

Gene:ADRB2
Variant:p.V48V

ADRB2

1,023 papers

RefSeq Summary

This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-typ...

Pfam Domains

7tm_1aa 50–326UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

adrenoceptor beta 2

HGNC Previous Symbol

ADRB2R

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000024.6
p.V48V
c.144G>A
Surrounding Variants
1 paper
NM_000024.6
p.V48insFs
c.143dupT
1 paper
NM_000024.6
p.A46A
c.138C>A
1 paper
NM_000024.6
p.N51Y
c.151A>T
39 papers
NM_000024.6
p.A46G
c.137C>G
1 paper
NM_000024.6
p.A46V
c.137C>T
2 papers
NM_000024.6
p.I43I
c.129C>T
1 paper
NM_000024.6
p.I43N
c.128T>A
1 paper
NM_000024.6
p.I43F
c.127A>T
1 paper
NM_000024.6
p.V54D
c.161T>A
1 paper
NM_000024.6
p.T56T
c.168A>T
1 paper
NM_000024.6
p.A57delFs
c.171delC
1 paper
NM_000024.6
p.M40V
c.118A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."