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|Synonyms||C-CBL | CBL2 | FRA11B | NSLL | RNF55|
|Gene Description||CBL, Cbl proto-oncogene C, is an E3 ubiquitin-protein ligase involved in cell signaling and ubiquitination of tyrosine kinases (PMID: 23085373). CBL mutations, often resulting in a loss of function, have been identified primarily in myeloid neoplasms, including myelodysplastic syndrome, acute myeloid leukemia, chronic myeloid leukemia, myelofibrosis, and juvenile myelomonocytic leukemia (PMID: 25477533).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||CBL act mut indicates that this variant results in a gain of function in the Cbl protein. However, the specific amino acid change has not been identified.|
|exon8||unknown||unknown||CBL exon 8 indicates an unspecified mutation has occurred in exon 8 of the CBL gene.|
|exon9||unknown||unknown||CBL exon 9 indicates an unspecified mutation has occurred in exon 9 of the CBL gene.|
|inact mut||unknown||loss of function||CBL inact mut indicates that this variant results in a loss of function of the Cbl protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||CBL mutant indicates an unspecified mutation in the CBL gene.|
|N890fs||frameshift||unknown||CBL N890fs results in a change in the amino acid sequence of the Cbl protein beginning at aa 890 of 906, likely resulting in premature truncation of the functional protein (UniProt.org). N890fs has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Jul 2020).|