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Gene CBL
Variant Y368_K382del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CBL Y368_K382del results in the deletion of 15 amino acids within the linker region of the Cbl protein from amino acids 368 to 382 (UniProt.org). Y368_K382del has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Y368_K382del

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Transcript NM_005188.4
gDNA chr11:g.119278172_119278216del45
cDNA c.1102_1146del45
Protein p.Y368_K382del15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119278172_119278216del45 c.1102_1146del45 p.Y368_K382del15 RefSeq GRCh38/hg38
XM_017018511 chr11:g.119285208_119285252del45 c.1103_1147del45 p.H368_L382del15 RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278172_119278216del45 c.1102_1146del45 p.Y368_K382del15 RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278172_119278216del45 c.1102_1146del45 p.Y368_K382del15 RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278172_119278216del45 c.1102_1146del45 p.Y368_K382del15 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 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...
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