Gene Detail

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Gene Symbol ASXL1
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).

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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.