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MAP2K1 activating mutations have been observed in a number of cancers including ovarian, melanoma and lung. These activating mutations are generally found in the N-terminal negative regulatory region or the ATP-binding region of the N-terminal lobe. Inhibitors of MEK genes have been shown to inhibit tumor growth in these cases." } ], "conceptType": "Gene", "name": "MAP2K1", "mappings": [ { "coding": { "id": "ncbigene:5604", "system": "https://www.ncbi.nlm.nih.gov/gene/", "code": "5604" }, "relation": "exactMatch" } ] } }, "molecularProfile": { "civic.mpid:82": { "id": "civic.mpid:82", "type": "CategoricalVariant", "name": "MAP2K1 P124S", "description": "MAP2K1 P124S is a recurrent mutation in melanoma, and is seen in bladder and colon cancer to a lesser degree. 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In cancerhotspots.org there are more than 10 (15) samples with the same amino acid change and less than 50 (25) samples with a somatic variant at the same amino acid position (OM3). The variant is absent in gnomAD database (v4.1.0) (OP4). Together these criteria indicate that P124S is likely oncogenic, with a score of 7. 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