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Gene CBL
Variant Y371del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions CBL Y371del results in the deletion of one amino acid in the linker region of the Cbl protein at amino acid 371 (UniProt.org). Y371del confers a loss of function to the Cbl protein as indicated by failure to regulate phosphorylation, demonstrating increased phosphorylation of intracellular proteins in cell culture (PMID: 9671395), decreased apoptosis, increased cell cycle progression, and transformation of cultured cells in the presence of FLT3 (PMID: 20622007, PMID: 31943762).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Y371del

CBL mutant CBL inact mut CBL Y371del

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Transcript NM_005188.4
gDNA chr11:g.119278182_119278184delACT
cDNA c.1112_1114delACT
Protein p.Y371delY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119278182_119278184delACT c.1112_1114delACT p.Y371del RefSeq GRCh38/hg38
NM_005188 chr11:g.119278182_119278184delACT c.1112_1114delACT p.Y371del RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278182_119278184delACT c.1112_1114delACT p.Y371del RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278182_119278184delACT c.1112_1114delACT p.Y371delY 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 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 systemic mastocytosis not applicable N/A Guideline Prognostic CBL mutations are associated with an adverse prognosis in patients with systemic mastocytosis (NCCN.org). detail...