DYRK1A (Q13627) variants and mutations

DYRK1A (also known as Q13627) is a human protein-coding gene encoding a dual specificity tyrosine-phosphorylation-regulated kinase 1A protein. It phosphorylates numerous transcriptional, synaptic, and cell-cycle targets during brain development and is highly dosage sensitive. Haploinsufficiency causes DYRK1A syndrome, typically with microcephaly, developmental delay, intellectual disability, and frequent seizures or autism-related features. This analysis covers 1,224 DYRK1A variants and mutations. Of these, 55% have computational variant effect predictions. Disease context includes DYRK1A-related intellectual disability syndrome, complex neurodevelopmental disorder, and microcephaly. Example DYRK1A variants include H2L, T3A, and T3I.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable DYRK1A variants

Examples include H2L, T3A, T3I, T3K, T3T, G4*, G4E, G5*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.