Varaico: Literature-Extracted Genetic Variants

Gene:ADRB2
Variant:p.S246R

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.S246R
c.738C>G
Surrounding Variants
1 paper
NM_000024.6
p.S246R
c.738C>A
1 paper
NM_000024.6
p.S246R
c.736A>C
1 paper
NM_000024.6
p.S246C
c.736A>T
1 paper
NM_000024.6
p.V248delFs
c.742delG
1 paper
NM_000024.6
p.Q247H
c.741G>C
2 papers
NM_000024.6
p.Q247H
c.741G>T
1 paper
NM_000024.6
p.V248L
c.742G>C
1 paper
NM_000024.6
p.V248L
c.742G>T
1 paper
NM_000024.6
p.V248fs
c.742_743fs
1 paper
NM_000024.6
p.L245F
c.733C>T
1 paper
NM_000024.6
p.E249G
c.746A>G
1 paper
NM_000024.6
p.D251H
c.751G>C
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