NFE2L2, nuclear factor, erythroid 2 like 2, 4780

N. diseases: 823; N. variants: 34
Disease: Renal Cell Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007134
Disease:
Renal Cell Carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007134
Disease:
Renal Cell Carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519920
rs1057519920
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007134
Disease:
Renal Cell Carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519921
rs1057519921
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007134
Disease:
Renal Cell Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs6721961
rs6721961
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE In 50 patients who had metastatic RCC and received cytoreductive nephrectomy, we performed Nrf2 gene mutation analysis using targeted next-generation sequencing, as well as investigating a specific single nucleotide polymorphism (SNP; rs6721961) in the Nrf2 promoter region and Nrf2 protein expression. 31752777 2019