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Gene CBL
Variant L857*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions CBL L857* results in a premature truncation of the Cbl protein at amino acid 857 of 906 (UniProt.org). L857* results in a loss of Cbl protein function as demonstrated by reduced Cbl dimerization, lack of nuclear translocation, and failure to ubiquitinate beta-catenin in cell culture (PMID: 23744067).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL inact mut CBL L857*

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Transcript NM_005188.4
gDNA chr11:g.119299629_119299631delCTCinsTAA
cDNA c.2569_2571delCTCinsTAA
Protein p.L857*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119299629_119299631delCTCinsTAA c.2569_2571delCTCinsTAA p.L857* RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119299629_119299631delCTCinsTAA c.2569_2571delCTCinsTAA p.L857* RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119299629_119299631delCTCinsTAA c.2569_2571delCTCinsTAA p.L857* 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 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...
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