Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.L684L

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.L684L
c.2052C>G
Surrounding Variants
1 paper
NM_004836.7
p.S685R
c.2053A>C
1 paper
NM_004836.7
p.L684F
c.2050C>T
1 paper
NM_004836.7
p.S685R
c.2055C>G
1 paper
NM_004836.7
p.S685R
c.2055C>A
2 papers
NM_004836.7
p.S686F
c.2057C>T
1 paper
NM_004836.7
p.D681D
c.2043C>T
2 papers
NM_004836.7
p.S688R
c.2062A>C
2 papers
NM_004836.7
p.T680delFs
c.2039_2040delTG
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.T680fs
c.2038_2039fs
1 paper
NM_004836.7
p.P689_M690insFs
c.2067_2068insC
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