Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.N779S

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.N779S
c.2336A>G
Surrounding Variants
1 paper
NM_004836.7
p.N779K
c.2337T>G
1 paper
NM_004836.7
p.N779K
c.2337T>A
1 paper
NM_004836.7
p.N779D
c.2335A>G
1 paper
NM_004836.7
p.D780Y
c.2338G>T
1 paper
NM_004836.7
p.G778G
c.2334C>T
1 paper
NM_004836.7
p.D777Y
c.2329G>T
1 paper
NM_004836.7
p.E781E
c.2343G>A
1 paper
NM_004836.7
p.M776I
c.2328G>T
1 paper
NM_004836.7
p.M776I
c.2328G>C
1 paper
NM_004836.7
p.M776I
c.2328G>A
1 paper
NM_004836.7
p.M776K
c.2327T>A
1 paper
NM_004836.7
p.G782E
c.2345G>A
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