Gene entry
EIF2AK3
eukaryotic translation initiation factor 2 alpha kinase 3
- Chromosome
- 2
- Cytoband
- 2p11.2
- Variants (rsID)
- 18
EIF2AK3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p11.2). Its official name is “eukaryotic translation initiation factor 2 alpha kinase 3”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs13045Benignsingle nucleotide variantWolcott-Rallison dysplasia|Connective tissue disorder
- rs1805165Benignsingle nucleotide variantWolcott-Rallison dysplasia
- rs201593811Benignsingle nucleotide variantWolcott-Rallison dysplasia|Monogenic diabetes|Connective tissue disorder
- rs35226268Benignsingle nucleotide variantWolcott-Rallison dysplasia
- rs867529Benignsingle nucleotide variantWolcott-Rallison dysplasia
- rs121908570Pathogenicsingle nucleotide variantWolcott-Rallison dysplasia
- rs864621972Pathogenicsingle nucleotide variantWolcott-Rallison dysplasia
- rs191277311Uncertain significancesingle nucleotide variantMonogenic diabetes|Wolcott-Rallison dysplasia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.