Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.S912S

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.S912S
c.2736C>T
Surrounding Variants
1 paper
NM_004836.7
p.S912fs
c.2734_2735fs
2 papers
NM_004836.7
p.V913M
c.2737G>A
1 paper
NM_004836.7
p.S912N
c.2735G>A
1 paper
NM_004836.7
p.V913V
c.2739G>A
1 paper
NM_004836.7
p.R911R
c.2733G>A
2 papers
NM_004836.7
p.R911delFs
c.2731_2732delCT
1 paper
NM_004836.7
p.R911K
c.2732G>A
1 paper
NM_004836.7
p.C914C
c.2742T>C
1 paper
NM_004836.7
p.R909I
c.2726G>T
1 paper
NM_004836.7
p.I917F
c.2749A>T
1 paper
NM_004836.7
p.I917V
c.2749A>G
1 paper
NM_004836.7
p.E908K
c.2722G>A
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