Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.L482L

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.L482L
c.1446A>G
Surrounding Variants
1 paper
NM_004836.7
p.P483S
c.1447C>T
1 paper
NM_004836.7
p.L482L
c.1444C>T
2 papers
NM_004836.7
p.P483Q
c.1448C>A
1 paper
NM_004836.7
p.Y484H
c.1450T>C
1 paper
NM_004836.7
p.Y481F
c.1442A>T
1 paper
NM_004836.7
p.Y481H
c.1441T>C
1 paper
NM_004836.7
p.Y481N
c.1441T>A
1 paper
NM_004836.7
p.Y480*
c.1440T>G
1 paper
NM_004836.7
p.Y480*
c.1440T>A
1 paper
NM_004836.7
p.Y485D
c.1453T>G
1 paper
NM_004836.7
p.G479S
c.1435G>A
1 paper
NM_004836.7
p.N478S
c.1433A>G
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