Gene Detail

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Gene Symbol CBL
Synonyms C-CBL | CBL2 | FRA11B | NSLL | RNF55
Gene Description CBL, Cbl proto-oncogene, 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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
867 11 11q23.3 NM_005188 Both: Oncogene and Tumor suppressor (PMID: 30606230)

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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, Feb 2023).