ERCC5

ERCC excision repair 5, endonuclease

Summary

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

Known Variants303 total

rsidPosition (GRCh37)AllelesClassClinVar
rs209425813:103,496,759C/Tdownstream gene variant—
rs132369713:103,497,849G/Cregulatory region variantbenign
rs11573296513:103,497,899G/A—benign
rs415024713:103,497,917C/T—benign
rs5611125013:103,498,071C/T—benign
rs1696061913:103,498,171G/C—benign
rs7410969013:103,498,177A/C—likely benign
rs415024813:103,498,180C/A—likely benign
rs75140213:103,498,198A/Gregulatory region variantbenign
rs133164599313:103,498,237C/T—uncertain significance
rs229614713:103,498,375T/Cregulatory region variantbenign
rs415024913:103,498,376G/C—uncertain significance
rs7675230013:103,498,417G/C—likely benign
rs91638486813:103,498,425A/C—uncertain significance
rs88604993913:103,498,461C/A—uncertain significance
rs55278157113:103,498,471A/G—uncertain significance
rs75484004313:103,498,491A/G—uncertain significance
rs75526024613:103,498,622G/A—likely benign
rs250150904013:103,498,627A/C—likely pathogenic
rs126601951213:103,498,648A/C—uncertain significance
rs20203827613:103,498,664G/A—likely benign
rs3429139713:103,498,672C/T—conflicting classifications of pathogenicity
rs37193770513:103,498,692A/G—likely benign
rs26760728113:103,498,699C/Amissense variantpathogenic
rs250150979213:103,498,707A/G—likely pathogenic
rs415025113:103,498,906G/A—likely benign
rs477143613:103,502,020T/Gintron variant—
rs415026213:103,504,313G/T—benign
rs4154891213:103,504,331C/T—likely benign
rs415026313:103,504,344A/G—benign
rs20210381913:103,504,458A/G—uncertain significance
rs75015648013:103,504,506C/T—uncertain significance
rs75817464413:103,504,507G/A—uncertain significance
rs104776813:103,504,517T/Csynonymous variantbenign
rs133361453513:103,504,539C/T—uncertain significance
rs76122480013:103,504,579T/G—uncertain significance
rs188223297113:103,504,584C/T—pathogenic
rs58777829313:103,504,591G/A—uncertain significance
rs12143457413:103,504,594C/Amissense variantpathogenic
rs75760283613:103,504,625A/C—uncertain significance
rs76402965913:103,506,116A/T—uncertain significance
rs37540485113:103,506,135C/T—uncertain significance
rs78050684013:103,506,136G/A—conflicting classifications of pathogenicity
rs77049046013:103,506,169T/C—likely benign
rs77227507813:103,506,172G/A—likely benign
rs76412929513:103,506,211C/T—likely benign
rs250153484013:103,506,225A/T—uncertain significance
rs5601031313:103,506,383G/A—likely benign
rs415027013:103,506,439G/A—benign
rs153572913:103,506,509A/C—benign
rs250153667713:103,506,636A/G—likely pathogenic
rs250153670913:103,506,647A/G—likely benign
rs12143457713:103,506,663C/Gmissense variantuncertain significance
rs498706313:103,506,690G/A—likely benign
rs77833393113:103,506,699C/T—conflicting classifications of pathogenicity
rs415027513:103,507,128G/Aintron variant—
rs415028113:103,508,095G/A—benign
rs188240520913:103,508,413A/T—uncertain significance
rs159537923913:103,508,417T/C—likely benign
rs14288459213:103,508,444T/C—likely benign
rs76225697613:103,508,445C/A—uncertain significance
rs75460438913:103,508,453A/G—likely benign
rs12143457313:103,508,460C/Tstop gainedpathogenic
rs250154316013:103,508,462G/A—uncertain significance
rs55635536013:103,508,506A/T—likely benign
rs57793310913:103,508,507A/C—likely benign
rs415029113:103,509,668A/Tintron variant—
rs11470136513:103,510,346C/T—benign
rs76902290213:103,510,620T/C—likely benign
rs37212291713:103,510,622C/T—uncertain significance
rs77418891413:103,510,646C/G—uncertain significance
rs15106152013:103,510,650C/T—uncertain significance
rs37453852213:103,510,651G/A—likely benign
rs214052317413:103,510,656A/C—uncertain significance
rs14136973213:103,510,688C/A—conflicting classifications of pathogenicity
rs250155171313:103,510,713C/T—uncertain significance
rs74844887513:103,510,719T/C—uncertain significance
rs139195686213:103,510,760A/G—uncertain significance
rs54109474513:103,510,765A/C—uncertain significance
rs55277609413:103,510,766G/C—uncertain significance
rs415029713:103,510,883A/C—benign
rs373686513:103,510,896C/T—benign
rs732164813:103,510,997T/C—benign
rs649171513:103,513,578G/A—benign
rs75642020313:103,513,855A/G—pathogenic
rs20177750313:103,513,891G/C—uncertain significance
rs20050427113:103,513,923A/G—uncertain significance
rs127441801913:103,513,967C/T—likely benign
rs12143457213:103,513,971C/Tstop gainedpathogenic
rs188262174913:103,513,985A/G—likely benign
rs75766230513:103,513,997C/T—likely benign
rs214052635613:103,514,017C/T—uncertain significance
rs74765142413:103,514,028G/A—uncertain significance
rs19309741813:103,514,060A/G—uncertain significance
rs75263875813:103,514,079C/G—likely benign
rs103341910913:103,514,083T/C—likely benign
rs798244813:103,514,091T/C—benign
rs4155801713:103,514,211G/A—likely benign
rs14341911913:103,514,350A/G—likely benign
rs250156502613:103,514,354T/G—conflicting classifications of pathogenicity

Showing 100 of 303 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.