Gene Detail


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Gene Symbol KMT2A
Synonyms ALL-1 | CXXC7 | HRX | HTRX1 | MLL | MLL1 | MLL1A | TRX1 | WDSTS
Gene Description KMT2A, lysine methyltransferase 2A, also referred to as MLL, is a transcriptional coactivator that epigenetically regulates gene transcription via methylation and is primarily associated with hematopoietic and embyronic development (PMID: 26161385). KMT2A translocations are frequently observed in specific leukemias including acute myeloid, acute lymphoblastic, and mixed lineage (PMID: 17957188).


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Variant Impact Protein Effect Variant Description Associated with drug Resistance
fusion fusion unknown KMT2A fusion indicates a fusion of the KMT2A gene, but the fusion partner is unknown.
rearrange unknown unknown KMT2A rearrangement indicates an unspecified rearrangement of the KMT2A gene.