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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 R1264* | 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 |