ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

Summary

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

Known Variants741 total

rsidPosition (GRCh37)AllelesClassClinVar
rs313603816:14,013,379C/Tregulatory region variant—
rs649848616:14,013,666A/Cregulatory region variantbenign
rs313604016:14,013,847C/G—likely benign
rs179979716:14,013,993T/A—benign
rs54397899816:14,014,023A/G—uncertain significance
rs77885987316:14,014,024T/C—uncertain significance
rs37378950816:14,014,026G/C—uncertain significance
rs14890455616:14,014,030C/T—uncertain significance
rs37583179416:14,014,031A/C—likely benign
rs78141741316:14,014,034G/A—uncertain significance
rs74850910216:14,014,037G/A—likely benign
rs6176016016:14,014,038C/T—uncertain significance
rs203193818616:14,014,039C/T—uncertain significance
rs77111759416:14,014,041G/A—uncertain significance
rs131988329616:14,014,042C/T—uncertain significance
rs77451019116:14,014,044C/T—pathogenic
rs132660961716:14,014,047C/G—uncertain significance
rs121449895016:14,014,048G/C—uncertain significance
rs75359600516:14,014,054C/T—uncertain significance
rs313604216:14,014,055C/T—likely benign
rs75035800516:14,014,056A/G—uncertain significance
rs37424377816:14,014,059G/T—uncertain significance
rs75462223816:14,014,063C/G—uncertain significance
rs214193698716:14,014,064G/A—likely benign
rs14073431116:14,014,065C/T—likely benign
rs121085320116:14,014,077G/A—uncertain significance
rs135587890116:14,014,080C/T—pathogenic
rs74849982016:14,014,083C/G—uncertain significance
rs20160679816:14,014,091G/A—likely benign
rs56004765316:14,014,095G/C—uncertain significance
rs58777828216:14,014,101C/T—uncertain significance
rs138903253916:14,014,103C/T—likely benign
rs36760826316:14,014,105A/G—uncertain significance
rs137004776016:14,014,108C/T—uncertain significance
rs130474426016:14,014,112C/G—uncertain significance
rs99665079216:14,014,113G/C—uncertain significance
rs77293323316:14,014,118A/G—likely benign
rs128791026916:14,014,120T/C—uncertain significance
rs6173171416:14,014,122G/A—conflicting classifications of pathogenicity
rs76288580416:14,014,127C/T—conflicting classifications of pathogenicity
rs214193719416:14,014,128G/C—uncertain significance
rs14460200516:14,014,131C/T—uncertain significance
rs214193722816:14,014,136G/A—likely benign
rs131368380816:14,014,140G/C—uncertain significance
rs75109519516:14,014,144C/G—uncertain significance
rs76713848616:14,014,146G/A—uncertain significance
rs75237945916:14,014,147A/G—uncertain significance
rs123485673516:14,014,149C/T—uncertain significance
rs77828399716:14,014,151G/A—likely benign
rs159661662316:14,014,152C/T—uncertain significance
rs148237824416:14,014,154C/T—likely benign
rs75786076216:14,014,159A/G—uncertain significance
rs77953828216:14,014,165T/A—uncertain significance
rs55214209916:14,014,167C/T—uncertain significance
rs254316134816:14,014,169C/T—likely benign
rs254316136416:14,014,170C/T—pathogenic
rs254316137416:14,014,174T/G—uncertain significance
rs214193734316:14,014,180G/A—uncertain significance
rs57195322216:14,014,187A/G—likely benign
rs95839042316:14,014,189C/T—uncertain significance
rs214193741216:14,014,200C/T—likely benign
rs121555889216:14,014,205G/A—likely benign
rs120309830016:14,014,209A/C—uncertain significance
rs254316152916:14,014,212A/T—uncertain significance
rs254316153916:14,014,216A/T—uncertain significance
rs203194666416:14,014,221G/A—uncertain significance
rs76635537816:14,014,234G/C—uncertain significance
rs214193751816:14,014,235G/T—uncertain significance
rs76252116:14,014,240G/A—benign
rs75902370416:14,014,242T/A—likely benign
rs147069691116:14,014,245C/G—likely benign
rs203194794516:14,014,248G/T—likely benign
rs179979816:14,014,278G/Aregulatory region variantbenign
rs313604316:14,014,308G/C—likely benign
rs74415416:14,015,081G/A——
rs313605516:14,015,577C/G—benign
rs78137351816:14,015,869C/G—likely benign
rs254316401016:14,015,881G/T—likely benign
rs159661792616:14,015,882A/G—likely benign
rs77395664716:14,015,885T/C—uncertain significance
rs75951816616:14,015,888G/A—uncertain significance
rs14531549616:14,015,891T/C—conflicting classifications of pathogenicity
rs214193985516:14,015,894T/C—uncertain significance
rs14159140016:14,015,897A/G—uncertain significance
rs6176016216:14,015,908G/A—conflicting classifications of pathogenicity
rs76571285816:14,015,912A/T—uncertain significance
rs5576194416:14,015,921G/A—conflicting classifications of pathogenicity
rs75502165616:14,015,927C/T—uncertain significance
rs214193993216:14,015,930C/T—uncertain significance
rs313605616:14,015,932C/T—likely benign
rs76993206316:14,015,936C/T—uncertain significance
rs18743500816:14,015,937G/A—uncertain significance
rs19188678216:14,015,939C/T—uncertain significance
rs37148736816:14,015,940G/A—uncertain significance
rs203198777816:14,015,942G/A—uncertain significance
rs55633062816:14,015,955T/G—uncertain significance
rs254316418916:14,015,958C/T—uncertain significance
rs77525774216:14,015,966A/C—uncertain significance
rs76827001316:14,015,970G/A—uncertain significance
rs254316423016:14,015,973A/G—uncertain significance

Showing 100 of 741 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.