rs28933368
ERBB2;MIR4728
GLIOMA SUSCEPTIBILITY 1
0.800
GeneticVariation
UNIPROT
Lung cancer: intragenic ERBB2 kinase mutations in tumours.
15457249
2004
rs28933368
ERBB2;MIR4728
GLIOMA SUSCEPTIBILITY 1
A
0.800
CausalMutation
CLINVAR
rs1057519816
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
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
rs1057519816
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Adenocarcinoma of lung (disorder)
T
0.710
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519816
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Adenocarcinoma of lung (disorder)
A
0.710
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs121913469
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
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
rs1057519816
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Neoplasms
0.710
GeneticVariation
BEFREE
The tumor was found to harbor both EGFR L858R and ERBB2 S310F alterations and also tested positive for a known TP53 germline mutation.
24835218
2014
rs28933369
ERBB2;MIR4728
Neoplasms
A
0.710
GeneticVariation
CLINVAR
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
25157968
2014
rs1058808
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Asthma
0.710
GeneticVariation
BEFREE
ICSNPathway analysis identified four candidate causal SNPs, four genes, and 21 candidate causal pathways, which in total provided four hypothetical biologic mechanisms: (1) rs7192 (nonsynonymous coding) to HLA-DRA to 21 pathways, such as, the role of eosinophils in the chemokine network of allergy, Th1/Th2 differentiation, and asthma (nominal p ≤ 0.001, FDR p ≤ 0.01); (2) rs20541 (nonsynonymous coding) to IL13 to asthma and cytokines and inflammatory response (nominal p<0.001, FDR p ≤ 0.008); (3) rs1058808 (frameshift coding) to ERBB2 to transmembrane receptor activity (nominal p=0.001, FDR p=0.01); (4) rs17350764 (nonsynonymous coding (deleterious)) to OR52J3 to transmembrane receptor activity (nominal p=0.001, FDR p=0.01).
23200760
2013
rs1057519816
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Neoplasms
T
0.710
GeneticVariation
CLINVAR
Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2.
22908275
2012
rs1057519816
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Neoplasms
A
0.710
GeneticVariation
CLINVAR
Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2.
22908275
2012
rs1058808
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Asthma
0.710
GeneticVariation
GWASDB
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.
21804549
2011
rs28933369
ERBB2;MIR4728
Neoplasms
0.710
GeneticVariation
BEFREE
In b oth spontaneous and DMBA studies, onset of palpable tumors was delayed in G60S mice compared with mice in control groups.
21151177
2011
rs121913469
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Carcinoma of lung
0.710
GeneticVariation
UNIPROT
Lung cancer: intragenic ERBB2 kinase mutations in tumours.
15457249
2004
rs1136201
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Glomerular Filtration Rate
A
0.700
GeneticVariation
GWASCAT
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
31451708
2019
rs1242562412
ERBB2;PGAP3
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
28390064
2018
rs1242562412
ERBB2;PGAP3
Movement Disorders
A
0.700
CausalMutation
CLINVAR
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
28390064
2018
rs1242562412
ERBB2;PGAP3
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
28390064
2018
rs146110680
ERBB2;PGAP3
mathematical ability
A
0.700
GeneticVariation
GWASCAT
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
30038396
2018
rs2952156
×
Entrez Id:
2064
Gene Symbol:
ERBB2
ERBB2
Asthma
A
0.700
GeneticVariation
GWASCAT
Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
29273806
2018
rs4252665
ERBB2;MIEN1
Lupus Erythematosus, Systemic
A
0.700
GeneticVariation
GWASCAT
Transancestral mapping and genetic load in systemic lupus erythematosus.
28714469
2017
rs1057519738
ERBB2;MIR4728
Malignant Uterine Corpus Neoplasm
A
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519738
ERBB2;MIR4728
Adenocarcinoma of pancreas
A
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519738
ERBB2;MIR4728
Colorectal Neoplasms
A
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
rs1057519738
ERBB2;MIR4728
Gallbladder Carcinoma
A
0.700
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016