ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

Summary

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Known Variants491 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18035412:128,014,913C/T—benign
rs16840427912:128,014,952C/G—uncertain significance
rs41505252:128,014,995T/C—benign
rs5452972582:128,015,034C/G—uncertain significance
rs41505242:128,015,066A/G—likely benign
rs16840479242:128,015,089G/A—uncertain significance
rs41505232:128,015,143A/G—likely benign
rs1464272602:128,015,185C/T—uncertain significance
rs1474995272:128,015,187C/T—likely benign
rs5504013632:128,015,196C/T—likely benign
rs21047256532:128,015,215G/A—uncertain significance
rs7695097662:128,015,216G/T—uncertain significance
rs13549947702:128,015,217C/T—likely benign
rs3720944322:128,015,218G/A—uncertain significance
rs7712459592:128,015,227C/T—uncertain significance
rs7745714432:128,015,228G/A—uncertain significance
rs7596958232:128,015,229C/T—likely benign
rs16840567892:128,015,235G/C—uncertain significance
rs16840569332:128,015,236T/C—uncertain significance
rs12101088022:128,015,251A/T—uncertain significance
rs1153127382:128,015,258C/T—uncertain significance
rs7579735872:128,015,259G/A—likely benign
rs7797485782:128,015,261C/T—uncertain significance
rs7510026142:128,015,262G/A—likely benign
rs7544964792:128,015,268A/C—likely benign
rs3694688522:128,015,273T/G—uncertain significance
rs13783480942:128,015,274A/G—likely benign
rs7747308242:128,015,294G/A—uncertain significance
rs3765932262:128,015,295C/T—conflicting classifications of pathogenicity
rs3686642302:128,015,297G/A—uncertain significance
rs2010541062:128,015,308C/T—conflicting classifications of pathogenicity
rs2007337042:128,015,309G/T—pathogenic
rs7622417162:128,015,311G/C—likely benign
rs8664869122:128,015,314G/A—likely benign
rs7659565132:128,015,319A/T—likely benign
rs24679987172:128,015,320A/G—likely benign
rs7512448112:128,015,321C/G—likely benign
rs46627182:128,015,367C/T—benign
rs1133074402:128,015,394C/T—benign
rs24680022982:128,016,879G/C—uncertain significance
rs21047285172:128,016,881T/G—uncertain significance
rs5877782762:128,016,882C/A—uncertain significance
rs12483069432:128,016,884G/A—likely benign
rs41505222:128,016,886A/G—benign
rs7556673832:128,016,902C/T—likely benign
rs1431400542:128,016,907C/T—uncertain significance
rs7788240432:128,016,917G/A—likely benign
rs24680025682:128,016,926G/A—likely benign
rs7803273532:128,016,930G/C—uncertain significance
rs7470017182:128,016,943C/T—uncertain significance
rs7486342942:128,016,949G/C—uncertain significance
rs7703434152:128,016,953G/A—likely benign
rs7633158622:128,016,958G/A—pathogenic
rs7752326262:128,016,969T/C—uncertain significance
rs1147109972:128,016,977C/T—conflicting classifications of pathogenicity
rs41505212:128,016,978G/A—likely benign
rs10232499042:128,016,980A/G—likely benign
rs1145089822:128,016,983C/T—conflicting classifications of pathogenicity
rs5635506132:128,016,984G/A—uncertain significance
rs7800886022:128,016,991C/A—uncertain significance
rs3742629172:128,017,000C/T—uncertain significance
rs2018064292:128,017,002A/C—uncertain significance
rs7702205642:128,017,003T/C—uncertain significance
rs24680030222:128,017,007A/G—likely benign
rs1512169042:128,017,009C/T—conflicting classifications of pathogenicity
rs13839773852:128,017,010G/A—likely benign
rs7746219302:128,017,012G/A—uncertain significance
rs7682467112:128,017,017G/A—uncertain significance
rs2006537292:128,017,030A/C—likely benign
rs24680031612:128,017,040C/T—likely benign
rs41505202:128,017,291T/C—likely benign
rs41505152:128,018,522T/C—benign
rs13030992072:128,018,796A/T—likely benign
rs3727494732:128,018,799T/C—uncertain significance
rs9757482692:128,018,800G/A—uncertain significance
rs13328984102:128,018,804C/G—uncertain significance
rs14799249522:128,018,825T/G—likely benign
rs9229423142:128,018,842G/A—uncertain significance
rs16841812292:128,018,846G/C—likely benign
rs7682848352:128,018,848T/C—uncertain significance
rs24680079412:128,018,852G/A—likely benign
rs24680080342:128,018,870G/A—likely benign
rs5877782752:128,018,872C/T—uncertain significance
rs13539031042:128,018,875G/C—uncertain significance
rs14192543892:128,018,882C/T—conflicting classifications of pathogenicity
rs7694590382:128,018,884G/A—likely benign
rs9737407502:128,018,891G/A—likely benign
rs24680082432:128,018,900A/G—likely benign
rs3758485542:128,018,906C/G—uncertain significance
rs5681939122:128,018,908C/T—conflicting classifications of pathogenicity
rs2017936422:128,018,914C/T—uncertain significance
rs12187487022:128,018,921C/T—likely benign
rs16841843542:128,018,928G/T—likely benign
rs24680083922:128,018,931A/T—likely benign
rs24680084202:128,018,940A/G—likely benign
rs41505142:128,019,178G/C—benign
rs41505062:128,020,546G/T——
rs41504992:128,028,792C/T—benign
rs24680275282:128,028,896T/G—likely benign
rs1843743562:128,028,902G/T—likely benign

Showing 100 of 491 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.