Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.E524_I525delFs

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
9 papers
NM_004836.7
p.E524_I525delFs
c.1570_1573del4
Surrounding Variants
1 paper
NM_004836.7
p.I525V
c.1573A>G
1 paper
NM_004836.7
p.E524fs
c.1570_1571fs
6 papers
NM_004836.7
p.E524*
c.1570G>T
1 paper
NM_004836.7
p.V526insFs
c.1578dupT
1 paper
NM_004836.7
p.K523N
c.1569A>T
1 paper
NM_004836.7
p.K523N
c.1569A>C
1 paper
NM_004836.7
p.A527A
c.1581A>C
13 papers
NM_004836.7
p.W522*
c.1566G>A
13 papers
NM_004836.7
p.W522*
c.1565G>A
1 paper
NM_004836.7
p.T528M
c.1583C>T
8 papers
NM_004836.7
p.W521*
c.1563G>A
2 papers
NM_004836.7
p.P515_H520delFs
c.1544_1559del16
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