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CBL P417H - Gene Variant Detail

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Gene CBL
Variant P417H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL P417H lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). P417H has been identified in sequencing studies (PMID: 27011036, PMID: 23010802), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL P417H

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Transcript NM_005188.4
gDNA chr11:g.119278532C>A
cDNA c.1250C>A
Protein p.P417H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119278532C>A c.1250C>A p.P417H RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278532C>A c.1250C>A p.P417H RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278532C>A c.1250C>A p.P417H RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278532C>A c.1250C>A p.P417H 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 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
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