Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.L863*

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.L863*
c.2588T>G
Surrounding Variants
1 paper
NM_004836.7
p.L863S
c.2588T>C
1 paper
NM_004836.7
p.L863*
c.2588T>A
2 papers
NM_004836.7
p.L863fs
c.2587_2588fs
1 paper
NM_004836.7
p.T862T
c.2586T>G
3 papers
NM_001313915.2
p.T711I
c.2132C>T
NM_004836.7
p.T862I
c.2585C>T
1 paper
NM_004836.7
p.T862A
c.2584A>G
2 papers
NM_004836.7
p.L863_L865delFs
c.2589_2593del5
1 paper
NM_004836.7
p.T861N
c.2582C>A
1 paper
NM_004836.7
p.P857L
c.2570C>T
1 paper
NM_004836.7
p.N870T
c.2609A>C
1 paper
NM_004836.7
p.N870insFs
c.2609dupA
1 paper
NM_004836.7
p.T871N
c.2612C>A
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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."