Gene Variant Detail

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Gene CBL
Variant Q882H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL Q882H lies within the UBA domain of the Cbl protein (UniProt.org). Q882H has been identified in sequencing studies (PMID: 30352278), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Jul 2020).
Associated Drug Resistance

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Transcript NM_005188
gDNA chr11:g.119299706G>T
cDNA c.2646G>T
Protein p.Q882H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119299706G>T c.2646G>T p.Q882H 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"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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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 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 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, 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 Q882H unknown