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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* |
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 |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119277776C>T | c.1027C>T | p.R343* | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 | 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... |