Gene Variant Detail

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Gene CBL
Variant Y371D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CBL Y371D lies within the linker region of the Cbl protein (UniProt.org). Y371D disrupts Cbl conformation in in vitro assays, and is transforming in cell culture (PMID: 27609087), and therefore, is predicted to lead to a loss of Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Y371D

CBL mutant CBL inact mut CBL Y371D

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Transcript NM_005188.4
gDNA chr11:g.119278181T>G
cDNA c.1111T>G
Protein p.Y371D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278181T>G c.1111T>G p.Y371D RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278181T>G c.1111T>G p.Y371D RefSeq GRCh38/hg38
NM_005188 chr11:g.119278181T>G c.1111T>G p.Y371D RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278181T>G c.1111T>G p.Y371D RefSeq GRCh38/hg38

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  • 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 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
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