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Gene CBL
Variant R420Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL R420Q lies within the RING domain of the Cbl protein (PMID: 17446348). R420Q results in impaired internalization, ubiquitination, and degradation of Egfr and decreased inhibition of Erk1/2 phosphorylation (PMID: 25178484), and disrupts Cbl ubiquitin ligase activity, leading to activation of Flt3 signaling, and is transforming in cell culture in the presence of Flt3 (PMID: 17446348).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL R420Q

CBL mutant CBL inact mut CBL R420Q

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Transcript NM_005188.4
gDNA chr11:g.119278541G>A
cDNA c.1259G>A
Protein p.R420Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278541G>A c.1259G>A p.R420Q RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278541G>A c.1259G>A p.R420Q RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278541G>A c.1259G>A p.R420Q RefSeq GRCh38/hg38
NM_005188 chr11:g.119278541G>A c.1259G>A p.R420Q RefSeq GRCh38/hg38

Filtering

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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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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