Gene Detail

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Gene Symbol MAP2K1
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).

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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.