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|Gene Variant Descriptions||CBL D501H lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). D501H has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2023).|
|Associated Drug Resistance|
|Category Variants Paths||
CBL mutant CBL D501H
|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||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|
|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|