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Gene | CBL |
Variant | K382E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL K382E lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). K382E confers a loss of function to Cbl as demonstrated by lack of Cbl activity (PMID: 26676746), impaired internalization, ubiquitination, and degradation of Egfr, and decreased inhibition of Erk1/2 phosphorylation in culture (PMID: 25178484). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL K382E CBL mutant CBL inact mut CBL K382E |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278214A>G |
cDNA | c.1144A>G |
Protein | p.K382E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.4 | chr11:g.119278214A>G | c.1144A>G | p.K382E | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278214A>G | c.1144A>G | p.K382E | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278214A>G | c.1144A>G | p.K382E | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278214A>G | c.1144A>G | p.K382E | RefSeq | GRCh38/hg38 |
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 | 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 | 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 | myelofibrosis | not applicable | N/A | Guideline | Prognostic | CBL mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). | detail... |