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|Synonyms||CFC3 | MAPKK1 | MEK1 | MEL | MKK1 | PRKMK1|
|Gene Description||MAP2K1 (MEK1), mitogen-activated protein kinase kinase 1, is a serine-threonine kinase, which activates that RAS-RAF-MEK-ERK pathway in cell proliferation and differentiation (PMID: 22753777). MAP2K1 (MEK1) activating mutations have been identified in a number of solid tumor types including, melanoma (PMID: 29753091), colorectal (PMID: 28819429), lung adenocarcinoma (PMID: 25351745, PMID: 32361034), histiocytic sarcoma (PMID: 29768143), and Map2k1 mutations are often associated with resistance to Mek and Raf inhibition (PMID: 29753091).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||MAP2K1 act mut indicates that this variant results in a gain of function in the Map2k1 protein. However, the specific amino acid change has not been identified.|
|fusion||fusion||unknown||MAP2K1 fusion indicates a fusion of the MAP2K1 gene, but the fusion partner is unknown.|
|inact mut||unknown||loss of function||MAP2K1 inact mut indicates that this variant results in a loss of function of the Map2k1 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||MAP2K1 mutant indicates an unspecified mutation in the MAP2K1 gene.|
|A76fs||frameshift||loss of function - predicted||MAP2K1 A76fs results in a change in the amino acid sequence of the Map2k1 protein beginning at aa 76 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), A76fs is predicted to result in a loss of Map2k1 function.|