Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.S818G

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.S818G
c.2452A>G
Surrounding Variants
1 paper
NM_004836.7
p.A816V
c.2447C>T
1 paper
NM_004836.7
p.N815N
c.2445T>C
1 paper
NM_004836.7
p.E821E
c.2463G>A
1 paper
NM_004836.7
p.E820_E821del1
c.2460_2462delTCT
1 paper
NM_004836.7
p.E821del1
c.2461_2462delCTC
1 paper
NM_004836.7
p.P822L
c.2465C>T
1 paper
NM_004836.7
p.P822R
c.2465C>G
1 paper
NM_004836.7
p.P822P
c.2466G>A
1 paper
NM_004836.7
p.C813G
c.2437T>G
3 papers
NM_004836.7
p.K823E
c.2467A>G
1 paper
NM_004836.7
p.S811C
c.2432C>G
1 paper
NM_004836.7
p.D810E
c.2430T>G
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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."