Varaico: Literature-Extracted Genetic Variants

Gene:ADRB3
Variant:p.R399L

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
1 paper
NM_000025.3
p.R399L
c.1196G>T
Surrounding Variants
1 paper
NM_000025.3
p.G402Splc
c.1205+3A>T
1 paper
NM_000025.3
p.G402Splc
c.1205+14G>T
1 paper
NM_000025.3
p.S389R
c.1167C>G
1 paper
NM_000025.3
p.S389R
c.1167C>A
1 paper
NM_000025.3
p.S389R
c.1165A>C
1 paper
NM_000025.3
p.F380Y
c.1139T>A
1 paper
NM_000025.3
p.R376_P377insFs
c.1128_1129ins37
1 paper
NM_000025.3
p.L359V
c.1075C>G
1 paper
NM_000025.3
p.R358G
c.1072C>G
1 paper
NM_000025.3
p.R353_S354delFs
c.1057_1060del4
1 paper
NM_000025.3
p.R353fs
c.1057_1058fs
1 paper
NM_000025.3
p.R353C
c.1057C>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."