Gene Variant Detail

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Gene CBL
Variant Y371F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL Y371F lies within the linker region of the Cbl protein (UniProt.org). Y371F impairs E3 ubiquitin ligase activity and demonstrates reduced levels of Egfr ubiquitination compared to wild-type Cbl in cell culture and an in vitro assay (PMID: 10635327).
Associated Drug Resistance

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Transcript NM_005188
gDNA chr11:g.119278182A>T
cDNA c.1112A>T
Protein p.Y371F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278182A>T c.1112A>T p.Y371F RefSeq GRCh38/hg38
NM_005188 chr11:g.119278182A>T c.1112A>T p.Y371F RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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, Quizartinib (AC220) reduced white blood cell counts and decreased myeloid cell invasion in a CBL mutant mouse model with myeloproliferative disorder (PMID: 22990016). 22990016
Molecular Profile Protein Effect Treatment Approaches
CBL Y371F loss of function