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Gene CEBPA
Variant Q305dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions CEBPA Q305dup indicates the insertion of the duplicate amino acid, valine (V)-308 within the bZIP domain of the Cebpa protein (UniProt.org). Q305dup has been identified in the scientific literature (PMID: 25468431, PMID: 21403128), but has not been biochemically characterized and therefore, its effect on Cebpa protein function is unknown (PubMed, Apr 2020).
Associated Drug Resistance

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Transcript NM_004364
gDNA chr19:g.33301500_33301502
cDNA c.913_915
Protein p.Q305
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004364 chr19:g.33301500_33301502 c.913_915 p.Q305 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

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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
CEBPA mutant acute myeloid leukemia predicted - sensitive Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Momelotinib (CYT387) compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia predicted - sensitive Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Jakafi (ruxolitinib) compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia not applicable N/A Guideline Prognostic CEBPA biallelic mutations are associated with a favorable prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
CEBPA mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, biallelic CEBPA mutations were associated with favorable clinical outcome in patients with cytogenetically normal acute myeloid leukemia (PMID: 26601784, PMID: 19171880, PMID: 20038735, PMID: 22915647). 22915647 26601784 19171880 20038735
CEBPA mutant acute myeloid leukemia predicted - sensitive AZD1480 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to AZD1480 compared to control AML cells in culture (PMID: 27034432). 27034432
CEBPA mutant acute myeloid leukemia predicted - sensitive Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia (AML) cells harboring biallelic CEBPA mutations demonstrated increased sensitivity to Xeljanz (tofacitinib) compared to control AML cells in culture (PMID: 27034432). 27034432
Molecular Profile Protein Effect Treatment Approaches
CEBPA Q305dup unknown