EGFR Chromosome 7
Epidermal growth factor receptor
Upload your DNA to see your personal genotypes for variants in EGFR.
What This Gene Does
The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
Erb-b2 receptor tyrosine kinases
Locus Type
gene with protein product
Location
7p11.2
Ensembl
ENSG00000146648
Associated Conditions (38)
Adenocarcinoma of lung
response to tyrosine kinase inhibitor in
somatic
Nonsmall cell lung cancer
Tyrosine kinase inhibitor response
gefitinib response - Efficacy
Non-small cell lung carcinoma
Lung adenocarcinoma
Lung carcinoma
Hereditary cancer-predisposing syndrome
Neoplasm
erlotinib response - Efficacy
EGFR-related lung cancer
Lung cancer
Inflammatory skin and bowel disease
neonatal
2
EGFR-related disorder
Squamous cell carcinoma of the head and neck
Diffuse midline glioma
+18 more conditions
Key Variants
RS121434568
drug response
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic
Drug Response
RS121434569
drug response
Non-small cell lung carcinoma, Tyrosine kinase inhibitor response, erlotinib response - Efficacy
Drug Response
RS121913422
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
RS121913424
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
RS121913425
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
RS121913434
drug response
Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
Drug Response
RS121913435
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
RS121913436
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
RS121913463
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
RS1554350337
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
RS1554350347
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
RS1554350351
drug response
Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response, Tyrosine kinase inhibitor response
Drug Response
All Variants (331)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS930997590 | Health Risk | Conflicting classifications of pathogenicity | EGFR-related lung cancer, Lung cancer, Hereditary cancer-predisposing syndrome |
| RS952307505 | Health Risk | Conflicting classifications of pathogenicity | EGFR-related lung cancer, Hereditary cancer-predisposing syndrome, EGFR-related lung cancer |
| RS987102148 | Health Risk | Conflicting classifications of pathogenicity | EGFR-related lung cancer, Hereditary cancer-predisposing syndrome, EGFR-related lung cancer |
| RS1034084415 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer, EGFR-related lung cancer |
| RS1166325650 | Health Risk | Likely pathogenic | EGFR-related lung cancer, Thyroid cancer, nonmedullary |
| RS1292517709 | Health Risk | Likely pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS1360336411 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS140516819 | Health Risk | Likely pathogenic | EGFR-related lung cancer, Lung cancer, Hereditary cancer-predisposing syndrome |
| RS1554350366 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS1554350382 | Health Risk | Likely pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS1786518484 | Health Risk | Likely pathogenic | Lip and oral cavity carcinoma, Lip and oral cavity carcinoma |
| RS1787830570 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer, EGFR-related lung cancer |
| RS188703146 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128926460 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128933635 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128938137 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128946044 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128951424 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128952727 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128954790 | Health Risk | Likely pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS2128958905 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128964427 | Health Risk | Likely pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS2534726018 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2534769494 | Health Risk | Likely pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS2534866114 | Health Risk | Likely pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2535499036 | Health Risk | Likely pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS2535549224 | Health Risk | Likely pathogenic | EGFR-related lung cancer, Thyroid cancer, nonmedullary |
| RS397517094 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS397517098 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS397517100 | Health Risk | Likely pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS397517106 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS397517114 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS397517116 | Health Risk | Likely pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS121913428 | Health Risk | Pathogenic | Non-small cell lung carcinoma, Neoplasm, Non-small cell lung carcinoma |
| RS121913465 | Health Risk | Pathogenic | Non-small cell lung carcinoma, Neoplasm, Non-small cell lung carcinoma |
| RS1231769201 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS1275784384 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS1584238193 | Health Risk | Pathogenic | Non-small cell lung carcinoma, Non-small cell lung carcinoma |
| RS1785628941 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS1785702810 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS1787407972 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS1787409872 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS1787859607 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128926159 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128934926 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128935161 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128935185 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |
| RS2128946276 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2128946294 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2128946495 | Health Risk | Pathogenic | EGFR-related lung cancer, EGFR-related lung cancer |