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|Gene Variant Descriptions||CBL C404R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C404R is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2023).|
|Associated Drug Resistance|
|Category Variants Paths||
CBL mutant CBL exon8 CBL C404R
|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||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||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|
|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||myelofibrosis||not applicable||N/A||Guideline||Prognostic||CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org).||detail...|