Gene Detail

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Gene Symbol KMT2A
Synonyms ALL-1 | ALL1 | CXXC7 | GAS7 | HRX | HTRX | 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, PMID: 32243611).

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Molecular Profile Protein Effect Treatment Approaches
KMT2A A2571V unknown
KMT2A A3737V unknown
KMT2A act mut gain of function
KMT2A amp no effect
KMT2A C1173R unknown
KMT2A D2295N unknown
KMT2A D2384E unknown
KMT2A D3876N unknown
KMT2A D3921Y unknown
KMT2A D505N unknown
KMT2A E1060D unknown
KMT2A E1361* loss of function - predicted
KMT2A E1472* loss of function - predicted
KMT2A E1984K unknown
KMT2A E2416K unknown
KMT2A E2986K unknown
KMT2A E3448K unknown
KMT2A E3938K unknown
KMT2A F1458S unknown
KMT2A F1481L unknown
KMT2A F663V unknown
KMT2A fusion unknown
KMT2A G2349S unknown
KMT2A G2610D unknown
KMT2A G3376D unknown
KMT2A G3842S unknown
KMT2A G3899V unknown
KMT2A G606E unknown
KMT2A H3907D unknown
KMT2A inact mut loss of function
KMT2A K1103N unknown
KMT2A K1256Q unknown
KMT2A K1321T unknown
KMT2A K1457N unknown
KMT2A K2276T unknown
KMT2A K246N unknown
KMT2A K254Q unknown
KMT2A L3153V unknown
KMT2A L597V unknown
KMT2A M2213V unknown
KMT2A mutant unknown
KMT2A N3084S unknown
KMT2A over exp no effect
KMT2A P2148S unknown
KMT2A P2846H unknown
KMT2A P2928L unknown
KMT2A P2946S unknown
KMT2A P3095Q unknown
KMT2A P3407L unknown
KMT2A positive unknown
KMT2A R1064* loss of function - predicted
KMT2A R1151* loss of function - predicted
KMT2A R1532C unknown
KMT2A R1976Q unknown
KMT2A R2093M unknown
KMT2A R2160Q unknown
KMT2A R2379* loss of function - predicted
KMT2A R2619C unknown
KMT2A R2656* loss of function - predicted
KMT2A R3656W unknown
KMT2A R3741Q unknown
KMT2A R3841W gain of function - predicted
KMT2A R3864C unknown
KMT2A R3886* unknown
KMT2A R3903C unknown
KMT2A R3903H loss of function - predicted
KMT2A R3932H unknown
KMT2A R3965W unknown
KMT2A R407* loss of function - predicted
KMT2A R427W unknown
KMT2A R652* loss of function - predicted
KMT2A R736M unknown
KMT2A R933Q unknown
KMT2A rearrange unknown
KMT2A rearrange FLT3 exon 14 ins
KMT2A S1062Y unknown
KMT2A S1152L unknown
KMT2A S1643Y unknown
KMT2A S1685F unknown
KMT2A S2690Y unknown
KMT2A S2771Y unknown
KMT2A S2785Y unknown
KMT2A S3120L unknown
KMT2A S3377L unknown
KMT2A S3576F unknown
KMT2A S3865F loss of function - predicted
KMT2A S466A unknown
KMT2A S534L unknown
KMT2A S774Vfs*12 loss of function - predicted
KMT2A S902R unknown
KMT2A T1061fs loss of function - predicted
KMT2A T3868N unknown
KMT2A V2178A unknown
KMT2A V2246G unknown
KMT2A W838Lfs*9 loss of function - predicted
KMT2A Y3883S unknown