Gene Variant Detail

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Gene CBL
Variant C384Y
Impact List missense
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 exon8 CBL C384Y

CBL mutant CBL inact mut CBL C384Y

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Transcript NM_005188.4
gDNA chr11:g.119278221G>A
cDNA c.1151G>A
Protein p.C384Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278221G>A c.1151G>A p.C384Y RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278221G>A c.1151G>A p.C384Y RefSeq GRCh38/hg38
NM_005188 chr11:g.119278221G>A c.1151G>A p.C384Y RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278221G>A c.1151G>A p.C384Y RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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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...