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|Synonyms||BOPS | MDS|
|Gene Description||ASXL1, additional sex combs like 1, transcriptional regulator, is involved in epigenetic regulation of gene expression and forms complexes with several proteins to regulate transcription (PMID: 23736028). Mutations in ASXL1 are frequent in chronic myelomonocytic leukemia (PMID: 26771811, PMID: 23736028), and have been identified in a number of different tumor types including acute myeloid leukemia and liver cancer (PMID: 23736028).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||ASXL1 act mut indicates that this variant results in a gain of function in the Asxl1 protein. However, the specific amino acid change has not been identified.|
|inact mut||unknown||loss of function||ASXL1 inact mut indicates that this variant results in a loss of function of the Asxl1 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||ASXL1 mutant indicates an unspecified mutation in the ASXL1 gene.|