Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.L16V

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.L16V
c.46C>G
Surrounding Variants
1 paper
NM_004836.7
p.L15V
c.43C>G
1 paper
NM_004836.7
p.L17L
c.51G>T
1 paper
NM_004836.7
p.L17L
c.51G>A
1 paper
NM_004836.7
p.L18R
c.53T>G
1 paper
NM_004836.7
p.A13_L14ins1
c.39_40insCAG
1 paper
NM_004836.7
p.L18L
c.54G>A
1 paper
NM_004836.7
p.A13P
c.37G>C
1 paper
NM_004836.7
p.L19R
c.56T>G
1 paper
NM_004836.7
p.L19L
c.57G>A
1 paper
NM_004836.7
p.V11delFs
c.32delA
1 paper
NM_004836.7
p.V11L
c.31G>C
1 paper
NM_004836.7
p.L21M
c.61C>A
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