ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Disease: Adenocarcinoma of lung (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		0.710 GeneticVariation BEFREE In this study, we reported the first clinical evidence of efficacy generated by afatinib, the irreversible HER family inhibitor, targeting HER2 S310Y single site mutation in lung adenocarcinoma. 29561699 2018
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519816
rs1057519816
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016