Disease: melanoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519731
rs1057519731
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0025202
Disease:
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
dbSNP: rs1057519731
rs1057519731
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0025202
Disease:
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
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0025202
Disease:
melanoma 		C 0.720 CausalMutation CLINVAR 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
dbSNP: rs1057519731
rs1057519731
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0025202
Disease:
melanoma 		C 0.720 CausalMutation CLINVAR Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors. 22588879 2012
dbSNP: rs1057519731
rs1057519731
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0025202
Disease:
melanoma 		C 0.720 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931 2011
dbSNP: rs1057519731
rs1057519731
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0025202
Disease:
melanoma 		C 0.720 CausalMutation CLINVAR Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling. 21383288 2011