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|Protein Effect||loss of function - predicted|
|Gene Variant Descriptions||CBL C384Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C384Y is predicted to disrupt Cbl E3 ligase activity, and results in increased binding of Cbl to Lyn, increased activation of Lyn and PI3K/AKT signaling, increased proliferation in Cbl-null cells, and is transforming in culture (PMID: 33512474).|
|Associated Drug Resistance|
|Category Variants Paths||
CBL mutant CBL inact mut CBL C384Y
CBL mutant CBL exon8 CBL C384Y
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|CBL mutant||systemic mastocytosis||not applicable||N/A||Guideline||Prognostic||CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org).||detail...|
|CBL mutant||myelodysplastic/myeloproliferative neoplasm||not applicable||N/A||Clinical Study||Prognostic||In clinical analyses, mutations in CBL were associated with adverse prognosis in patients with chronic myelomonocytic leukemia (PMID: 26230957, PMID: 23690417, PMID: 19901108).||26230957 19901108 23690417|
|CBL mutant||myelofibrosis||not applicable||N/A||Guideline||Prognostic||CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).||detail...|
|CBL mutant||bone marrow cancer||sensitive||Quizartinib||Preclinical||Actionable||In a preclinical study, Vanflyta (quizartinib) reduced white blood cell counts and decreased myeloid cell invasion in a CBL mutant mouse model with myeloproliferative disorder (PMID: 22990016).||22990016|