MAPK1 (P28482) variants and mutations

MAPK1 (also known as P28482) is a human protein-coding gene encoding a mitogen-activated protein kinase 1 protein. It converts upstream RAS-RAF-MEK signaling into phosphorylation of cytoplasmic and nuclear targets controlling proliferation, differentiation, and development. Germline dysregulating variants can cause neurodevelopmental RASopathy phenotypes, while pathway hyperactivation is common in cancer. This analysis covers 624 MAPK1 variants and mutations. Of these, 49% have computational variant effect predictions. Disease context includes Noonan syndrome, Noonan syndrome 13, and cancer. Example MAPK1 variants include A2G, A2V, and A3E.

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 MAPK1 variants

Examples include A2G, A2V, A3E, A3G, A3V, A4G, A4T, A4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.