rs138377344

This variant is located in the EIF2AK1 gene.

ClinVar annotation

Uncertain Significance★★★
2 submitters

not specified

View on ClinVar →

About EIF2AK1

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. [provided by RefSeq, Aug 2008]

View all EIF2AK1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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