EGFR

epidermal growth factor receptor

Summary

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]

Known Variants2,347 total

rsidPosition (GRCh37)AllelesClassClinVar
rs69654697:55,084,967C/A——
rs173357107:55,086,489C/A—likely benign
rs7128297:55,086,755G/Tregulatory region variantlikely benign
rs7128307:55,086,780A/Cregulatory region variantlikely benign
rs8951392197:55,086,865G/A—likely benign
rs21288532787:55,086,975G/A—uncertain significance
rs7730692297:55,086,977C/G—uncertain significance
rs7494332877:55,086,978C/T—conflicting classifications of pathogenicity
rs21288532937:55,086,979C/T—likely benign
rs7712108387:55,086,981C/A—conflicting classifications of pathogenicity
rs11716345067:55,086,982C/T—likely benign
rs7744871337:55,086,983G/C—uncertain significance
rs7595827877:55,086,984G/C—uncertain significance
rs21288533247:55,086,985G/C—likely benign
rs7676516487:55,086,986A/G—conflicting classifications of pathogenicity
rs7759641757:55,086,988G/A—likely benign
rs7611831097:55,086,989G/C—uncertain significance
rs17863673507:55,086,990C/A—uncertain significance
rs3695813687:55,086,991C/T—likely benign
rs7542598477:55,086,992G/A—uncertain significance
rs17863683777:55,086,993G/A—uncertain significance
rs21288533647:55,086,994G/C—likely benign
rs21288533687:55,086,995G/T—uncertain significance
rs17863689607:55,086,997A/C—likely benign
rs21288533757:55,086,998G/A—uncertain significance
rs12177141147:55,086,999C/G—uncertain significance
rs7579365617:55,087,000G/T—likely benign
rs17863696647:55,087,001C/T—uncertain significance
rs7660295897:55,087,003C/T—likely benign
rs21288533907:55,087,006G/A—likely benign
rs21288533917:55,087,007G/A—uncertain significance
rs5678946707:55,087,008C/T—conflicting classifications of pathogenicity
rs10105990717:55,087,009G/T—likely benign
rs13810572607:55,087,015G/A—likely benign
rs21288534247:55,087,016G/T—uncertain significance
rs17863714217:55,087,021G/T—likely benign
rs7545270297:55,087,022C/T—conflicting classifications of pathogenicity
rs7808659317:55,087,026G/C—uncertain significance
rs10287357207:55,087,029C/A—conflicting classifications of pathogenicity
rs13911104637:55,087,030G/T—likely benign
rs3731297097:55,087,031G/A—conflicting classifications of pathogenicity
rs11947020757:55,087,032C/T—uncertain significance
rs14218859427:55,087,033G/T—likely benign
rs12574237077:55,087,035G/A—uncertain significance
rs21288534947:55,087,036T/C—likely benign
rs9871021487:55,087,037C/T—conflicting classifications of pathogenicity
rs17863740807:55,087,038G/A—uncertain significance
rs9117674017:55,087,040G/A—conflicting classifications of pathogenicity
rs17863744647:55,087,041C/A—uncertain significance
rs13094264097:55,087,042T/G—likely benign
rs17863748697:55,087,045G/A—likely benign
rs21288535347:55,087,047A/G—uncertain significance
rs21288535437:55,087,053A/C—uncertain significance
rs7706730467:55,087,054G/A—likely benign
rs7745515487:55,087,056A/C—uncertain significance
rs17863761177:55,087,058G/A—uncertain significance
rs13988281087:55,087,060T/G—conflicting classifications of pathogenicity
rs17863764017:55,087,064G/C—uncertain significance
rs21288535767:55,087,066C/T—likely benign
rs25348897717:55,087,067G/T—likely benign
rs17863767597:55,087,069G/A—likely benign
rs17863770997:55,087,071C/G—likely benign
rs25348898157:55,087,072T/C—likely benign
rs21288536057:55,087,074G/A—likely benign
rs7720807177:55,087,075C/G—likely benign
rs13220866417:55,087,076C/T—likely benign
rs17863778107:55,087,077G/T—likely benign
rs12415993387:55,087,078G/C—likely benign
rs173357177:55,087,119C/A—likely benign
rs173357247:55,087,121G/C—likely benign
rs173357387:55,087,139G/T—benign
rs1149725087:55,088,508T/Cregulatory region variant—
rs7633177:55,095,197A/C——
rs25349858967:55,111,371G/C—uncertain significance
rs7591657:55,116,707G/Aintron variant—
rs171724307:55,122,650G/Aintron variant—
rs7235267:55,134,819A/C——
rs7235277:55,134,872A/T——
rs613896157:55,146,926A/Gregulatory region variant—
rs77850137:55,152,667G/Aintron variant—
rs125355367:55,154,381G/Aregulatory region variant—
rs23025357:55,154,688A/Cregulatory region variant—
rs119791587:55,159,349A/Gregulatory region variant—
rs49479727:55,161,043G/A——
rs77996277:55,161,156G/Aintron variant—
rs69584977:55,161,746T/Cintron variant—
rs37350617:55,163,867G/Aintron variant—
rs7591587:55,179,209G/C——
rs77796447:55,185,301A/Gregulatory region variant—
rs49474927:55,187,992G/T——
rs132449257:55,192,256A/C—benign
rs127189457:55,192,963T/Gregulatory region variant—
rs69647057:55,209,637C/Aintron variant—
rs173363247:55,209,712T/C—benign
rs7556313147:55,209,962C/A—likely benign
rs12965328717:55,209,963T/C—likely benign
rs7777368697:55,209,964G/C—likely benign
rs7570619597:55,209,969T/C—likely benign
rs17945016147:55,209,973T/C—likely benign
rs17945018517:55,209,979T/C—uncertain significance

Showing 100 of 2,347 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.