MYCN (N-myc proto-oncogene protein) variants and mutations

MYCN (also known as N-myc proto-oncogene protein) is a human protein-coding gene encoding a n-myc proto-oncogene protein. It drives transcriptional programs for growth, metabolism, and proliferation during neural and other embryonic development. Amplification is a major adverse prognostic feature in neuroblastoma, while germline dysregulation can cause developmental syndromes with abnormal growth. This analysis covers 1,371 MYCN variants and mutations. Of these, 62% have computational variant effect predictions. Disease context includes Feingold syndrome type 1, Feingold syndrome, and megalencephaly-polydactyly syndrome. Example MYCN variants include M1?, P2L, and P2R.

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, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable MYCN variants

Examples include M1?, P2L, P2R, P2S, P2P, S3I, S3N, S3R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.