Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.L543fs

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.L543fs
c.1627_1628fs
Surrounding Variants
2 papers
NM_004836.7
p.L543F
c.1627C>T
1 paper
NM_004836.7
p.R542G
c.1624A>G
1 paper
NM_004836.7
p.R541H
c.1622G>A
1 paper
NM_004836.7
p.R541C
c.1621C>T
3 papers
NM_004836.7
p.P546P
c.1638T>G
1 paper
NM_004836.7
p.H547Y
c.1639C>T
1 paper
NM_004836.7
p.H545_P546delFs
c.1635_1638del4
1 paper
NM_004836.7
p.H547Q
c.1641T>G
1 paper
NM_004836.7
p.H547Q
c.1641T>A
1 paper
NM_004836.7
p.P548L
c.1643C>T
1 paper
NM_004836.7
p.I539F
c.1615A>T
1 paper
NM_004836.7
p.H549Y
c.1645C>T
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