Gene Variant Detail

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Gene CEBPA
Variant R343Afs*79
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CEBPA R343Afs*79 indicates a shift in the reading frame starting at amino acid 343 and terminating 79 residues downstream, resulting in premature truncation of the functional protein, and extension of the 358aa Cebpa protein length by 64 amino acids (UniProt.org). R343Afs*79 has been identified in the scientific literature (PMID: 26796102), 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.33301390_33301391insGGGGGGGGCGA
cDNA c.1026_1027insGCCCCCCCCTC
Protein p.R343Afs*79
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004364 chr19:g.33301390_33301391insGGGGGGGGCGA c.1026_1027insGCCCCCCCCTC p.R343Afs*79 RefSeq GRCh38/hg38

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  • 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
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
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 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
Molecular Profile Protein Effect Treatment Approaches
CEBPA R343Afs*79 unknown