Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519731
rs1057519731
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		0.720 GeneticVariation BEFREE Our data confirming that MEK2(C125S), but not the synonymous MEK1(C121S) protein, confers resistance to combination therapy highlight the functional differences between these kinases and the preponderance of MEK2 mutations in combination therapy-resistant melanomas. 25452114

2014
dbSNP: rs1057519731
rs1057519731
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		0.720 GeneticVariation BEFREE We found that the acquired MEK1-C121S mutation in BRAF-V600E mutant melanoma conferred resistance to both vemurafenib and selumetinib but not E6201. 24448821

2014