ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763193414
rs763193414
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Oncogenic AKT1(E17K) mutation induces mammary hyperplasia but prevents HER2-driven tumorigenesis. 27004402 2016
dbSNP: rs1238981206
rs1238981206
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE In search for alternative driver mutations next generation amplicon sequencing for hotspot mutations in 50 genes cardinal to tumorigenesis was performed and in addition the RET G691S polymorphism was investigated. 25769001 2015
dbSNP: rs1457127715
rs1457127715
Entrez Id: 2064
Gene Symbol: ERBB2
ERBB2
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE This study uses a novel Cx43 mutant mouse model (G60S mice) and cross-breeding strategies to determine the role of Cx43 in all stages of breast tumorigenesis. 21151177 2011
dbSNP: rs28933369
rs28933369
Entrez Id: 2064;100616132
Gene Symbol: ERBB2;MIR4728
ERBB2;MIR4728
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE This study uses a novel Cx43 mutant mouse model (G60S mice) and cross-breeding strategies to determine the role of Cx43 in all stages of breast tumorigenesis. 21151177 2011