Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.S727A

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
2 papers
NM_004836.7
p.S727A
c.2179T>G
Surrounding Variants
1 paper
NM_004836.7
p.C728R
c.2182T>C
1 paper
NM_004836.7
p.I726F
c.2176A>T
1 paper
NM_004836.7
p.I726V
c.2176A>G
1 paper
NM_004836.7
p.G725G
c.2175G>C
1 paper
NM_004836.7
p.G725W
c.2173G>T
1 paper
NM_004836.7
p.F722F
c.2166T>C
1 paper
NM_004836.7
p.T731K
c.2192C>A
1 paper
NM_004836.7
p.F722S
c.2165T>C
1 paper
NM_004836.7
p.S721Y
c.2162C>A
1 paper
NM_004836.7
p.S719_R720del1
c.2157_2159delCTG
1 paper
NM_004836.7
p.S733S
c.2199A>T
1 paper
NM_004836.7
p.S719R
c.2157C>G
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