Varaico: Literature-Extracted Genetic Variants

Gene:GNB3
Variant:p.D153del1

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
Selected Variant
8 papers
NM_002075.4
p.D153del1
c.457_458delGAT
Surrounding Variants
1 paper
NM_002075.4
p.L152P
c.455T>C
1 paper
NM_002075.4
p.D154Y
c.460G>T
2 papers
NM_002075.4
p.V158M
c.472G>A
1 paper
NM_002075.4
p.S161L
c.482C>T
1 paper
NM_002075.4
p.T164I
c.491C>T
1 paper
NM_002075.4
p.S140F
c.419C>T
2 papers
NM_002075.4
p.R137Q
c.410G>A
1 paper
NM_002075.4
p.V179insFs
c.536dupT
1 paper
NM_002075.4
p.F180fs
c.538_539fs
1 paper
NM_002075.4
p.G182R
c.544G>A
1 paper
NM_002075.4
p.G182R
c.544G>C
1 paper
NM_002075.4
p.G131G
c.393C>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."