Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.S136C

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
18 papers
NM_004836.7
p.S136C
c.407C>G
Surrounding Variants
2 papers
NM_004836.7
p.G135fs
c.403_404fs
1 paper
NM_004836.7
p.G135G
c.405T>A
2 papers
NM_004836.7
p.S134delFs
c.402delG
1 paper
NM_004836.7
p.V138E
c.413T>A
1 paper
NM_004836.7
p.S134delFs
c.400delA
1 paper
NM_004836.7
p.V132M
c.394G>A
1 paper
NM_004836.7
p.S141R
c.421A>C
1 paper
NM_004836.7
p.S141N
c.422G>A
1 paper
NM_004836.7
p.D131H
c.391G>C
1 paper
NM_004836.7
p.S141R
c.423C>G
1 paper
NM_004836.7
p.S141R
c.423C>A
1 paper
NM_004836.7
p.L142F
c.424C>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."