Gene: MAP2K1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516792
rs397516792
MAP2K1
0.720 GeneticVariation BEFREE Furthermore, MEK1(P124Q/S) mutations were shown to have independent kinase activity and introduction of these mutations into a BRAF-mutant melanoma cell line diminished inhibition of ERK phosphorylation by dabrafenib and enhanced clonogenic survival in the presence of dabrafenib compared with cells ectopically expressing wild-type MEK1. 25370473

2015
dbSNP: rs1057519731
rs1057519731
MAP2K1
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
MAP2K1
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
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: rs397516792
rs397516792
MAP2K1
T 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519731
rs1057519731
MAP2K1
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
MAP2K1
C 0.720 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931

2011
dbSNP: rs1057519731
rs1057519731
MAP2K1
C 0.720 CausalMutation CLINVAR Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling. 21383288

2011
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.720 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931

2011
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.720 CausalMutation CLINVAR COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. 21107320

2010
dbSNP: rs397516792
rs397516792
MAP2K1
0.720 GeneticVariation BEFREE One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244. 19915144

2009
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.720 CausalMutation CLINVAR One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244. 19915144

2009
dbSNP: rs727504317
rs727504317
MAP2K1
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519729
rs1057519729
MAP2K1
C 0.700 GeneticVariation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013
dbSNP: rs1057519733
rs1057519733
MAP2K1
A 0.700 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013
dbSNP: rs1057519805
rs1057519805
MAP2K1
C 0.700 GeneticVariation CLINVAR Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. 23614898

2013
dbSNP: rs397516790
rs397516790
MAP2K1
G 0.700 GeneticVariation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013
dbSNP: rs869025608
rs869025608
MAP2K1
C 0.700 GeneticVariation CLINVAR Phase II trial of MEK inhibitor selumetinib (AZD6244, ARRY-142886) in patients with BRAFV600E/K-mutated melanoma. 23444215

2013
dbSNP: rs869025608
rs869025608
MAP2K1
T 0.700 GeneticVariation CLINVAR Phase II trial of MEK inhibitor selumetinib (AZD6244, ARRY-142886) in patients with BRAFV600E/K-mutated melanoma. 23444215

2013
dbSNP: rs1057519730
rs1057519730
MAP2K1
G 0.700 CausalMutation CLINVAR Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors. 22588879

2012
dbSNP: rs1057519732
rs1057519732
MAP2K1
T 0.700 CausalMutation CLINVAR Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors. 22588879

2012
dbSNP: rs1057519734
rs1057519734
MAP2K1
T 0.700 CausalMutation CLINVAR Melanoma genome sequencing reveals frequent PREX2 mutations. 22622578

2012
dbSNP: rs1057519728
rs1057519728
MAP2K1
C 0.700 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931

2011
dbSNP: rs1057519730
rs1057519730
MAP2K1
G 0.700 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931

2011
dbSNP: rs1057519732
rs1057519732
MAP2K1
T 0.700 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931

2011