Varaico: Literature-Extracted Genetic Variants

Gene:GNB3
Variant:p.K57_I58del1

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
2 papers
NM_002075.4
p.K57_I58del1
c.170_172delAGA
Surrounding Variants
1 paper
NM_002075.4
p.K57_I58delins
c.169_173delinsCC
1 paper
NM_002075.4
p.M61T
c.182T>C
1 paper
NM_002075.4
p.T50M
c.149C>T
1 paper
NM_002075.4
p.R48insFs
c.143dupG
1 paper
NM_002075.4
p.T47R
c.140C>G
2 papers
NM_002075.4
p.S67F
c.200C>T
2 papers
NM_002075.4
p.R42*
c.124C>T
1 paper
NM_002075.4
p.G41R
c.121G>A
1 paper
NM_002075.4
p.V39fs
c.115_116fs
1 paper
NM_002075.4
p.V39delFs
c.116delT
1 paper
NM_002075.4
p.V34M
c.100G>A
1 paper
NM_002075.4
p.V71_S72delFs
c.213_216del4
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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."