EPHA3 (Ephrin type-A receptor 3) variants and mutations

EPHA3 (also known as Ephrin type-A receptor 3) is a human protein-coding gene encoding an ephrin type-A receptor 3 protein. A receptor tyrosine kinase that binds ephrin proteins on neighboring cells and initiates contact-dependent signaling. It helps guide cell positioning and tissue organization. This analysis covers 2,675 EPHA3 variants and mutations. Of these, 46% have computational variant effect predictions. Disease context includes medullary thyroid gland carcinoma, neurodegenerative disease, and atrial fibrillation. Example EPHA3 variants include M1?, D2A, and D2E.

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.

Diseases linked to EPHA3

Notable EPHA3 variants

Examples include M1?, D2A, D2E, D2H, D2N, D2V, D2Y, C3*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.