Gene Variant Detail

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Gene CBL
Variant Q249E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL Q249E lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). Q249E results in increased ubiquitination of Egfr in cultured cells in one study (PMID: 26676746), but ubiquitinates Egfr similar to wild-type protein in another study (PMID: 20126411), and leads to increased viability (PMID: 20126411) and Met expression in culture (PMID: 28835699), and therefore, its effect on Cbl protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL Q249E

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Transcript NM_005188.4
gDNA chr11:g.119274022C>G
cDNA c.745C>G
Protein p.Q249E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119274022C>G c.745C>G p.Q249E RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119274022C>G c.745C>G p.Q249E RefSeq GRCh38/hg38
XM_017018511 chr11:g.119278295C>G c.745C>G p.Q249E RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119274022C>G c.745C>G p.Q249E RefSeq GRCh38/hg38
NM_005188 chr11:g.119274022C>G c.745C>G p.Q249E RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • 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")

Sorting

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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 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
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...