Gene Variant Detail

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Gene CBL
Variant Y368F
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CBL Y368F lies within the linker region of the Cbl protein (UniProt.org). Y368F does not impair E3 ubiquitin ligase activity and demonstrates similar levels of Egfr ubiquitination (PMID: 10635327) and Pdgfr polyubiquitination compared to wild-type Cbl in cell culture (PMID: 11239464), is not transforming in culture (PMID: 11239464) and therefore, is predicted to have no effect on Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Y368F

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Transcript NM_005188.4
gDNA chr11:g.119278173A>T
cDNA c.1103A>T
Protein p.Y368F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278173A>T c.1103A>T p.Y368F RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278173A>T c.1103A>T p.Y368F RefSeq GRCh38/hg38
NM_005188 chr11:g.119278173A>T c.1103A>T p.Y368F RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278173A>T c.1103A>T p.Y368F RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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...