ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Disease: Non-Small Cell Lung Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516976
rs397516976
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		ACGTGATGGCCTC 0.700 GeneticVariation CLINVAR Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas. 22761469 2012
dbSNP: rs397516981
rs397516981
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		TGGGCTCCCC 0.700 CausalMutation CLINVAR Clinical activity of afatinib (BIBW 2992) in patients with lung adenocarcinoma with mutations in the kinase domain of HER2/neu. 22325357 2012
dbSNP: rs397516981
rs397516981
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		TGGGCTCCCC 0.700 CausalMutation CLINVAR Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas. 22761469 2012
dbSNP: rs397516982
rs397516982
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		GGGCTCCCCA 0.700 GeneticVariation CLINVAR Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas. 22761469 2012
dbSNP: rs397516981
rs397516981
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		TGGGCTCCCC 0.700 CausalMutation CLINVAR siRNA targeting against EGFR, a promising candidate for a novel therapeutic application to lung adenocarcinoma. 18334834 2008
dbSNP: rs397516979
rs397516979
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		GTGT 0.700 GeneticVariation CLINVAR EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification. 16863509 2006
dbSNP: rs397516980
rs397516980
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		TTAT 0.700 GeneticVariation CLINVAR Lung adenocarcinoma harboring mutations in the ERBB2 kinase domain. 16825508 2006
dbSNP: rs397516980
rs397516980
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		TTAT 0.700 GeneticVariation CLINVAR HER2 mutation and response to trastuzumab therapy in non-small-cell lung cancer. 16775247 2006
dbSNP: rs397516981
rs397516981
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		TGGGCTCCCC 0.700 CausalMutation CLINVAR Optimization of patient selection for gefitinib in non-small cell lung cancer by combined analysis of epidermal growth factor receptor mutation, K-ras mutation, and Akt phosphorylation. 16638863 2006
dbSNP: rs397516979
rs397516979
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		GTGT 0.700 GeneticVariation CLINVAR Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. 15753357 2005
dbSNP: rs397516980
rs397516980
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		TTAT 0.700 GeneticVariation CLINVAR Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. 15753357 2005
dbSNP: rs397516981
rs397516981
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		TGGGCTCCCC 0.700 CausalMutation CLINVAR Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. 15753357 2005
dbSNP: rs397516982
rs397516982
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		GGGCTCCCCA 0.700 GeneticVariation CLINVAR Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. 15753357 2005
dbSNP: rs397516976
rs397516976
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		ACGTGATGGCCTC 0.700 GeneticVariation CLINVAR Lung cancer: intragenic ERBB2 kinase mutations in tumours. 15457249 2004
dbSNP: rs397516982
rs397516982
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		GGGCTCCCCA 0.700 GeneticVariation CLINVAR Lung cancer: intragenic ERBB2 kinase mutations in tumours. 15457249 2004
dbSNP: rs1555618025
rs1555618025
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		ACGTGATGGCTTC 0.700 GeneticVariation CLINVAR
dbSNP: rs397516975
rs397516975
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		AGCATACGTGATG 0.700 GeneticVariation CLINVAR
dbSNP: rs397516977
rs397516977
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		ATACGTGATGGCT 0.700 GeneticVariation CLINVAR
dbSNP: rs397516978
rs397516978
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs397516979
rs397516979
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		GTTT 0.700 GeneticVariation CLINVAR
dbSNP: rs372043866
rs372043866
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.020 GeneticVariation BEFREE Here, we report a case of an advanced chemotherapy-resistant NSCLC, harboring a novel HER3(V855A) somatic mutation homologous to the EGFR(L858R)activating mutation. 26689995 2016
dbSNP: rs372043866
rs372043866
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.020 GeneticVariation BEFREE It is indicated for the first-line treatment of patients with metastatic non-small cell lung cancer (NSCLC) carrying EGFR exon 19 deletions or exon 21 (L858R) mutations. 24844234 2014
dbSNP: rs758222990
rs758222990
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE This is the first case report describing a NSCLC patient harboring a rare <i>HER2</i> R896G mutation who responds to afatinib. 31849493 2019