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Gene CBL
Variant R343*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CBL R343* results in a premature truncation of the Cbl protein at amino acid 343 of 906 (UniProt.org). R343* has not been characterized however, due to the effects of other truncation mutations downstream of R343 (PMID: 23744067, PMID: 10617633), is predicted to lead to a loss of Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL inact mut CBL R343*

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Transcript NM_005188.4
gDNA chr11:g.119277776C>T
cDNA c.1027C>T
Protein p.R343*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119277776C>T c.1027C>T p.R343* RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119277776C>T c.1027C>T p.R343* RefSeq GRCh38/hg38
NM_005188 chr11:g.119277776C>T c.1027C>T p.R343* RefSeq GRCh38/hg38
XM_011543057 chr11:g.119277776C>T c.1027C>T p.R343* RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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 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 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 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