KMT2A (Q03164) variants and mutations

KMT2A (also known as Q03164) is a human protein-coding gene encoding a histone-lysine N-methyltransferase 2A protein. It maintains transcription of developmental and hematopoietic genes through chromatin-regulatory complexes and H3K4 methylation. Rearrangements create potent fusion oncoproteins that drive acute leukemias, while germline loss-of-function variants cause Wiedemann-Steiner syndrome. This analysis covers 7,780 KMT2A variants and mutations. Of these, 42% have computational variant effect predictions. Disease context includes Wiedemann-Steiner syndrome, hereditary disease, and Intellectual disability. Example KMT2A variants include M1L, A2V, and A2T.

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, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable KMT2A variants

Examples include M1L, A2V, A2T, A2S, A2G, A2E, A2A, H3P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.