EIF2AK3

Gene name: eukaryotic translation initiation factor 2-alpha kinase 3
OMIM ID: 604032
Chromosome location: 2p11.2

Mutations

Disease/Phenotype	Wolcott-Rallison syndrome
Reference transcript	NM_004836.5
DNA Change	c.851dupA
A.A. Change	p.Pro285AlafsX3
Exon/Intron	exon 5
Mutation Type	duplication
Reference	Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G.Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome. Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91.

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