Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519729
rs1057519729
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.720 GeneticVariation BEFREE Using HRM and ASP-qPCR methods we identified one (0.7 %; 1/145) MEK1 substitution (Q56P) in CNS metastases of NSCLC. 26860843 2016
dbSNP: rs1057519729
rs1057519729
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057519729
rs1057519729
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.720 GeneticVariation BEFREE We also screened 85 NSCLC cell lines for MEK1 exon 2 mutations; one line (NCI-H1437) harbors a Q56P substitution, a known transformation-competent allele of MEK1 originally identified in rat fibroblasts, and is sensitive to treatment with AZD6244. 18632602 2008
dbSNP: rs1057519729
rs1057519729
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.720 CausalMutation CLINVAR We also screened 85 NSCLC cell lines for MEK1 exon 2 mutations; one line (NCI-H1437) harbors a Q56P substitution, a known transformation-competent allele of MEK1 originally identified in rat fibroblasts, and is sensitive to treatment with AZD6244. 18632602 2008
dbSNP: rs1057519729
rs1057519729
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
C 0.720 CausalMutation CLINVAR RAS signalling is abnormal in a c-raf1 MEK1 double mutant. 7651428 1995