ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Disease: Carcinoma of lung ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913469
rs121913469
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung 		0.710 GeneticVariation BEFREE Atomistic insights into the lung cancer-associated L755P mutation in HER2 resistance to lapatinib: a molecular dynamics study. 25620423 2015
dbSNP: rs121913469
rs121913469
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung 		0.710 GeneticVariation UNIPROT Lung cancer: intragenic ERBB2 kinase mutations in tumours. 15457249 2004
dbSNP: rs372043866
rs372043866
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung 		0.030 GeneticVariation BEFREE Identification of a novel HER3 activating mutation homologous to EGFR-L858R in lung cancer. 26689995 2016
dbSNP: rs372043866
rs372043866
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung 		0.030 GeneticVariation BEFREE In preclinical studies, afatinib not only inhibited the growth of models with common activating EGFR mutations, but was also active in lung cancer models harboring wild-type EGFR or the EGFR L858R/T790M double mutant. 23664448 2013
dbSNP: rs372043866
rs372043866
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung 		0.030 GeneticVariation BEFREE EGFR mutations (CTG-->CGG; L858R) were found from 14 of 95 lung cancer patients. 16003726 2006
dbSNP: rs1196929947
rs1196929947
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Consistent with this, a G660D germline mutant lung cancer patient showed remarkable clinical response to HER2 blockade. 30449325 2018
dbSNP: rs1057519857
rs1057519857
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE Atomistic insights into the lung cancer-associated L755P mutation in HER2 resistance to lapatinib: a molecular dynamics study. 25620423 2015
dbSNP: rs1058808
rs1058808
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0684249
Disease:
Carcinoma of lung 		0.010 GeneticVariation BEFREE In this study, we investigated whether the four polymorphisms (-3444C>T, -1985 G>T, I655A A>G and P1170A C>G) of the HER-2 gene are associated with the risk of lung cancer in Korean populations. 19055823 2008