Varaico: Literature-Extracted Genetic Variants

Gene:ADRB3
Variant:p.R289Q

ADRB3

627 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor...

Pfam Domains

7tm_1aa 54–346UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

adrenoceptor beta 3

HGNC Previous Name

adrenergic, beta-3-, receptor

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000025.3
p.R289Q
c.866G>A
Surrounding Variants
1 paper
NM_000025.3
p.C292fs
c.874_875fs
1 paper
NM_000025.3
p.C292delFs
c.874_875delCA
1 paper
NM_000025.3
p.L282H
c.845T>A
2 papers
NM_000025.3
p.M298I
c.894G>T
1 paper
NM_000025.3
p.R278G
c.832C>G
1 paper
NM_000025.3
p.C275C
c.825C>T
1 paper
NM_000025.3
p.V272V
c.816G>C
2 papers
NM_000025.3
p.L306F
c.918G>T
2 papers
NM_000025.3
p.L306F
c.918G>C
1 paper
NM_000025.3
p.E270K
c.808G>A
1 paper
NM_000025.3
p.N312K
c.936C>A
3 papers
NM_000025.3
p.T265M
c.794C>T
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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."