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EIF2AK1

Synonyms
HCR, HRI, LEMSPAD, hHRI
External resources
Summary
The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding 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
2,289
Likely benign
2,488
Benign
2,348

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EIF2AK1 gene.

Phenotype class
Patients in 3billion (%)

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