Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.S686F

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
2 papers
NM_004836.7
p.S686F
c.2057C>T
Surrounding Variants
1 paper
NM_004836.7
p.S685R
c.2055C>G
1 paper
NM_004836.7
p.S685R
c.2055C>A
1 paper
NM_004836.7
p.S685R
c.2053A>C
1 paper
NM_004836.7
p.L684L
c.2052C>G
2 papers
NM_004836.7
p.S688R
c.2062A>C
1 paper
NM_004836.7
p.L684F
c.2050C>T
2 papers
NM_004836.7
p.S688R
c.2064C>G
2 papers
NM_004836.7
p.S688R
c.2064C>A
1 paper
NM_004836.7
p.P689_M690insFs
c.2067_2068insC
1 paper
NM_004836.7
p.D681D
c.2043C>T
1 paper
NM_004836.7
p.D691G
c.2072A>G
1 paper
NM_004836.7
p.D691D
c.2073T>C
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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."