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Gene Symbol CEBPA
Synonyms C/EBP-alpha | CEBP
Gene Description CEBPA, CCAAT enhancer binding protein alpha, is a transcription factor that regulates the expression of genes involved in cell differentiation (PMID: 26601784). Inactivation of CEBPA is associated with the pathogenesis of leukemia, including biallelic CEBPA-mutant AML (PMID: 32086816), and dysregulation of CEBPA has been identified in various solid tumors (PMID: 28720765, PMID: 28504718).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function CEBPA inact mut indicates that this variant results in a loss of function of the Cebpa protein. However, the specific amino acid change has not been identified.
mutant unknown unknown CEBPA mutant indicates an unspecified mutation in the CEBPA gene.
F82fs frameshift unknown CEBPA F82fs results in a change in the amino acid sequence of the Cebpa protein beginning at aa 82 of 358, likely resulting in premature truncation of the functional protein (UniProt.org). F82fs results in a loss of expression of the p42 isoform of the Cebpa protein, and leads to increased colony formation and leukemic features in cell culture and poor survival in a mouse model when in combination with CSF3R T618I (PMID: 31784538), but has not been fully individually characterized and therefore, its effect on Cebpa protein function is unknown.