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Gene CBL
Variant L467V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL L467V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). L467V has been identified in sequencing studies (PMID: 29338072), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL L467V

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Transcript NM_005188.4
gDNA chr11:g.119278681C>G
cDNA c.1399C>G
Protein p.L467V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119278681C>G c.1399C>G p.L467V RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278681C>G c.1399C>G p.L467V RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278681C>G c.1399C>G p.L467V RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278681C>G c.1399C>G p.L467V 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 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