EIF2AK3 - Gene browser | 3billion

EIF2AK3

EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3

HCNC Approved Symbol: EIF2AK3 (HGNC:3255)
Genomic Coordinates: 2:88,556,741 - 88,628,145 (2p11.2)
Synonyms: PEK, PERK
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the EIF2AK3 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

01
Patient count

Neonatal insulin-dependent diabetes mellitus: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

EIF2AK3 - Gene browser | 3billion