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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.
E635fs frameshift gain of function - predicted ASXL1 E635fs results in a change in the amino acid sequence of the Asxl1 protein beginning at aa 635 of 1541, likely resulting in premature truncation of the functional protein (UniProt.org). E635fs has not been characterized, however, due to the effects of an ASXL1 truncation at E635 (PMID: 30013160), is predicted to lead to gain of Asxl1 protein function.
G643fs frameshift gain of function - predicted ASXL1 G643fs results in a change in the amino acid sequence of the Asxl1 protein beginning at aa 643 of 1541, likely resulting in premature truncation of the functional protein (UniProt.org). G643fs has not been characterized, however, due to the effects of other truncation mutations upstream of G643 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
G646fs frameshift gain of function - predicted ASXL1 G646fs results in a change in the amino acid sequence of the Asxl1 protein beginning at aa 646 of 1541, likely resulting in premature truncation of the functional protein (UniProt.org). G646fs has not been characterized, however, based on the effects of a similar frameshift at G646 (PMID: 26095772), it is predicted to lead to a gain of Asxl1 protein function.