Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.S180*

EIF2AK3

596 papers

RefSeq Summary

The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation ...

Pfam Domains

Pkinaseaa 593–676UCSCProtein kinase domain
Pkinaseaa 864–1077UCSCProtein kinase domain

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2 alpha kinase 3

HGNC Alias Symbols

PEK; PERK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004836.7
p.S180*
c.539C>G
Surrounding Variants
1 paper
NM_004836.7
p.S180*
c.539C>A
1 paper
NM_004836.7
p.L182delFs
c.544delG
2 papers
NM_004836.7
p.V178I
c.532G>A
1 paper
NM_004836.7
p.E183V
c.548A>T
1 paper
NM_004836.7
p.S170_S184del15
c.508_551del45
2 papers
NM_004836.7
p.Y186H
c.556T>C
1 paper
NM_004836.7
p.G159_T173del15
c.475_518del45
1 paper
NM_004836.7
p.K187*
c.559A>T
1 paper
NM_004836.7
p.E172_Y186del15
c.514_557del45
2 papers
NM_004836.7
p.G189E
c.566G>A
1 paper
NM_004836.7
p.D190Y
c.568G>T
1 paper
NM_004836.7
p.D190_V192insFs
c.568_575dup8
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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."