Gene Variant Detail

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Gene CBL
Variant Q367_E373delinsRLK
Impact List indel
Protein Effect unknown
Gene Variant Descriptions CBL Q367_E373delinsRLK results in a deletion of seven amino acids in the linker region of the Cbl protein from amino acids 367 to 373, combined with the insertion of an arginine (R), a leucine (L), and a lysine (K) at the same site (UniProt.org). Q367_E373delinsRLK has been identified in the scientific literature (PMID: 31088841), but has not been biochemically characterized and therefore, its effect on CBl protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Q367_E373delinsRLK

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Transcript NM_005188.4
gDNA chr11:g.119278169_119278189delinsAGGCTTAAG
cDNA c.1099_1119delinsAGGCTTAAG
Protein p.Q367_E373delinsRLK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119278169_119278189delinsAGGCTTAAG c.1099_1119delinsAGGCTTAAG p.Q367_E373delinsRLK RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278169_119278189delinsAGGCTTAAG c.1099_1119delinsAGGCTTAAG p.Q367_E373delinsRLK RefSeq GRCh38/hg38

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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 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 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