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EIF2AK2

Synonyms
DYT33, EIF2AK1, LEUDEN, PKR, PPP1R83, PRKR
External resources
Summary
The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. Three transcript variants encoding two different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,364
Likely benign
5,468
Benign
31

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EIF2AK2 gene.

Phenotype class
Patients in 3billion (%)

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