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|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).|
|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.|