Gene: MAP2K1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908595
rs121908595
MAP2K1
0.720 GeneticVariation BEFREE However, despite reduced levels of MEK1 protein and the lower abundance of MEK1 Y130C protein than wild type, <i>Mek1</i><sup>Y130C</sup> mutants showed increased ERK (MAPK) protein activation in response to growth factors, supporting a role for MEK1 Y130C in hyperactivation of the RAS/MAPK pathway, leading to CFC. 29590634

2018
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia. 24637312

2014
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel. 24236184

2013
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Case report: Noonan syndrome with multiple giant cell lesions and review of the literature. 22848035

2012
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins. 23093928

2012
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. 18632602

2008
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome. 18413255

2008
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options. 17981815

2008
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. 17551924

2007
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007
dbSNP: rs121908595
rs121908595
MAP2K1
0.720 GeneticVariation BEFREE The patient died shortly thereafter and his post-mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC. 17567882

2007
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR The patient died shortly thereafter and his post-mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC. 17567882

2007
dbSNP: rs121908595
rs121908595
MAP2K1
G 0.720 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs397516793
rs397516793
MAP2K1
C 0.700 GeneticVariation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 CausalMutation CLINVAR In vivo severity ranking of Ras pathway mutations associated with developmental disorders. 28049852

2017
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs727504317
rs727504317
MAP2K1
A 0.700 CausalMutation CLINVAR Next-generation sequencing identifies rare variants associated with Noonan syndrome. 25049390

2014
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 CausalMutation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013
dbSNP: rs727504317
rs727504317
MAP2K1
A 0.700 CausalMutation CLINVAR Oncogenic MAP2K1 mutations in human epithelial tumors. 22327936

2012
dbSNP: rs397516790
rs397516790
MAP2K1
C 0.700 GeneticVariation CLINVAR MEK1 and AKT2 mutations in Japanese lung cancer. 20354455

2010
dbSNP: rs397516789
rs397516789
MAP2K1
T 0.700 GeneticVariation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009
dbSNP: rs397516792
rs397516792
MAP2K1
T 0.700 GeneticVariation CLINVAR MEK1 mutations confer resistance to MEK and B-RAF inhibition. 19915144

2009
dbSNP: rs397516793
rs397516793
MAP2K1
C 0.700 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009