ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

Summary

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Known Variants1,543 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77141491419:45,854,663G/A—uncertain significance
rs53455945919:45,854,671C/T—likely benign
rs104848885519:45,854,706C/A—uncertain significance
rs391689119:45,854,716C/G—benign
rs20035586519:45,854,720G/A—uncertain significance
rs116216816919:45,854,725C/A—uncertain significance
rs14028566719:45,854,735A/G—uncertain significance
rs54507638019:45,854,750C/T—uncertain significance
rs56036665119:45,854,768G/C—uncertain significance
rs54416370719:45,854,809G/T—uncertain significance
rs391688919:45,854,817G/A—uncertain significance
rs56565002919:45,854,819C/T—uncertain significance
rs88605449419:45,854,856C/T—uncertain significance
rs96655821919:45,854,888C/G—uncertain significance
rs197178299119:45,854,892G/A—uncertain significance
rs251399443519:45,854,893C/A—uncertain significance
rs251399445419:45,854,896C/T—likely benign
rs129142783219:45,854,900G/A—uncertain significance
rs121727624019:45,854,901C/G—uncertain significance
rs212321646719:45,854,902A/C—uncertain significance
rs251399448919:45,854,906T/C—uncertain significance
rs58777827219:45,854,907G/A—not provided
rs75809441819:45,854,908C/T—likely benign
rs20002290119:45,854,910C/G—uncertain significance
rs251399450619:45,854,912A/G—uncertain significance
rs76810128819:45,854,913T/A—uncertain significance
rs212321655419:45,854,914C/T—likely benign
rs118208461019:45,854,917C/T—likely benign
rs1318119:45,854,919T/Astop gaineduncertain significance
rs20124910819:45,854,920C/G—likely benign
rs122608567919:45,854,921A/T—uncertain significance
rs20075622719:45,854,923C/T—conflicting classifications of pathogenicity
rs37336399219:45,854,924G/A—uncertain significance
rs197178500919:45,854,926C/T—likely benign
rs77448058719:45,854,929C/G—uncertain significance
rs197178541719:45,854,930T/A—uncertain significance
rs251399463519:45,854,932T/C—likely benign
rs143749032619:45,854,933G/A—uncertain significance
rs135181454719:45,854,934A/T—uncertain significance
rs136875636419:45,854,937C/G—likely benign
rs251399465419:45,854,938T/C—likely benign
rs20137010619:45,854,939A/G—uncertain significance
rs37706458119:45,854,940G/A—likely benign
rs251399467919:45,854,941C/G—uncertain significance
rs115919441119:45,854,944C/T—likely benign
rs197178652919:45,854,946C/G—uncertain significance
rs135225763419:45,854,947C/T—likely benign
rs37017019019:45,854,949G/A—likely benign
rs75025181819:45,854,952T/C—uncertain significance
rs75816785919:45,854,953G/C—likely benign
rs19992206319:45,854,955G/C—uncertain significance
rs197178735019:45,854,956C/T—likely benign
rs197178742319:45,854,958G/A—likely benign
rs197178751319:45,854,959G/C—likely benign
rs156853034319:45,854,961A/G—uncertain significance
rs14506793319:45,854,962C/G—likely benign
rs134082749719:45,854,964G/A—likely benign
rs251399475019:45,854,966C/T—uncertain significance
rs251399476219:45,854,968C/T—likely benign
rs251399477119:45,854,971C/T—likely benign
rs251399478119:45,854,974A/C—uncertain significance
rs20182853519:45,854,975T/C—conflicting classifications of pathogenicity
rs197178813119:45,854,976C/G—uncertain significance
rs251399480619:45,854,980C/T—pathogenic
rs19995440519:45,854,981T/C—likely pathogenic
rs74861103919:45,854,982G/A—uncertain significance
rs20184090719:45,854,983C/T—conflicting classifications of pathogenicity
rs197178887719:45,854,984A/C—likely benign
rs135812008819:45,854,985G/A—likely benign
rs156853039619:45,854,990C/T—conflicting classifications of pathogenicity
rs156853040019:45,854,992G/T—likely benign
rs74963770619:45,854,994G/C—likely benign
rs77125522919:45,854,995G/A—likely benign
rs251399491819:45,854,996A/C—likely benign
rs97156102819:45,854,999G/A—likely benign
rs179979019:45,855,060C/G—benign
rs5580702819:45,855,061C/G—likely benign
rs391688519:45,855,176C/A—likely benign
rs14222913019:45,855,209G/A—likely benign
rs23841819:45,855,262G/T—benign
rs391688319:45,855,318G/A—benign
rs89887885619:45,855,369C/T—uncertain significance
rs37038577219:45,855,447G/A—benign
rs55036425019:45,855,449G/C—likely benign
rs36852714119:45,855,450G/A—likely benign
rs104641284419:45,855,452G/A—likely benign
rs76280709019:45,855,454A/T—likely benign
rs391688119:45,855,455C/A—likely benign
rs37473756019:45,855,456G/A—conflicting classifications of pathogenicity
rs197182622319:45,855,457C/G—likely benign
rs136894541519:45,855,460G/C—likely benign
rs92174360419:45,855,466C/A—pathogenic
rs75941211619:45,855,468C/T—uncertain significance
rs76725379319:45,855,469G/A—uncertain significance
rs145307948219:45,855,470G/C—uncertain significance
rs75245193519:45,855,476G/C—likely benign
rs156853115619:45,855,478G/A—uncertain significance
rs197182738419:45,855,479C/G—uncertain significance
rs12191301719:45,855,481G/Astop gainedpathogenic
rs251399751619:45,855,482T/C—likely benign

Showing 100 of 1,543 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.