Varaico: Literature-Extracted Genetic Variants

Gene:GNB1
Variant:p.K57E

GNB1

262 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 1–240UCSCG protein beta WD-40 repeat protein
WD40_Gbetaaa 1–340UCSCG protein beta WD-40 repeat protein

Gene Aliases

HGNC Name

G protein subunit beta 1

HGNC Previous Name

guanine nucleotide binding protein (G protein), beta polypeptide 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
48 papers
NM_002074.5
p.K57E
c.169A>G
Surrounding Variants
1 paper
NM_002074.5
p.A56insFs
c.168dupC
1 paper
NM_002074.5
p.A56A
c.168C>T
1 paper
NM_002074.5
p.A56A
c.168C>G
19 papers
NM_002074.5
p.K57M
c.170A>T
24 papers
NM_002074.5
p.K57T
c.170A>C
23 papers
NM_002074.5
p.K57N
c.171G>T
23 papers
NM_002074.5
p.K57N
c.171G>C
1 paper
NM_002074.5
p.A56T
c.166G>A
3 papers
NM_002074.5
p.L55V
c.163C>G
1 paper
NM_002074.5
p.Y59Y
c.177C>T
1 paper
NM_002074.5
p.A60T
c.178G>A
1 paper
NM_002074.5
p.H54N
c.160C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."