Varaico: Literature-Extracted Genetic Variants

Gene:GNB3

GNB3

762 papers

RefSeq Summary

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits ...

Pfam Domains

WD40_Gbetaaa 1–340UCSCG protein beta WD-40 repeat protein

Gene Aliases

HGNC Name

G protein subunit beta 3

HGNC Previous Name

guanine nucleotide binding protein (G protein), beta polypeptide 3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 97 variants
628 papers
NM_002075.4
p.S275S
c.825C>T
15 papers
NM_002075.4
p.G272S
c.814G>A
8 papers
NM_002075.4
p.D153del1
c.457_458delGAT
5 papers
NM_002075.4
p.C103Y
c.308G>A
4 papers
NM_002075.4
p.R219R
c.657T>A
3 papers
NM_002075.4
p.A26T
c.76G>A
2 papers
NM_002075.4
p.R42*
c.124C>T
2 papers
NM_002075.4
p.K57_I58del1
c.170_172delAGA
2 papers
NM_002075.4
p.S67F
c.200C>T
2 papers
NM_002075.4
p.D76N
c.226G>A
2 papers
NM_002075.4
p.D76Y
c.226G>T
2 papers
NM_002075.4
p.R137Q
c.410G>A
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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."