LIG4

DNA ligase 4

Summary

The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

Known Variants575 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11338853113:108,859,800G/A—benign
rs1013113:108,859,846C/T3 prime UTR variantbenign
rs7564246513:108,859,898C/T—benign
rs88604994313:108,859,975A/T—uncertain significance
rs53655509913:108,860,024A/G—uncertain significance
rs11601806113:108,860,055T/A—benign
rs94442279813:108,860,100T/C—uncertain significance
rs56729408213:108,860,143C/T—uncertain significance
rs20152998813:108,860,145G/C—uncertain significance
rs11679810113:108,860,196A/G—benign
rs309377213:108,860,204T/C—benign
rs309377113:108,860,267G/T—likely benign
rs56306683413:108,860,356A/C—uncertain significance
rs54334065113:108,860,395T/C—uncertain significance
rs88604994413:108,860,529T/G—uncertain significance
rs88604994513:108,860,575T/C—uncertain significance
rs103389743613:108,860,590T/C—uncertain significance
rs74877664113:108,860,596T/C—uncertain significance
rs88604994613:108,860,639T/C—uncertain significance
rs309376913:108,860,677T/C—benign
rs53835561213:108,860,715C/G—uncertain significance
rs309376813:108,860,750T/A—benign
rs309376713:108,860,752T/C—benign
rs223264413:108,860,777G/C—likely benign
rs88604994713:108,860,825C/G—uncertain significance
rs223264313:108,860,827C/T—likely benign
rs36932073713:108,860,847A/C—likely benign
rs77339151513:108,860,855G/C—uncertain significance
rs76667911413:108,860,881T/C—likely benign
rs250157220713:108,860,902T/C—likely benign
rs250157243613:108,860,914A/G—likely benign
rs250157253013:108,860,917C/T—likely benign
rs36813212613:108,860,919T/G—uncertain significance
rs75008061013:108,860,927G/C—pathogenic
rs187817248013:108,860,941A/G—likely benign
rs132497901613:108,860,942C/A—uncertain significance
rs142998584713:108,860,945T/C—uncertain significance
rs136559635413:108,860,950T/G—likely benign
rs14871119013:108,860,955T/G—uncertain significance
rs78098300513:108,860,958T/C—uncertain significance
rs14237489413:108,860,960A/T—uncertain significance
rs15127174813:108,860,962C/T—likely benign
rs77330078813:108,860,972A/G—uncertain significance
rs74947089813:108,860,974A/G—likely benign
rs137281725813:108,860,999G/C—uncertain significance
rs18392875513:108,861,005C/T—uncertain significance
rs142343771113:108,861,006G/A—uncertain significance
rs74995410113:108,861,007A/G—likely benign
rs250157485313:108,861,008C/T—uncertain significance
rs121899538713:108,861,021C/T—uncertain significance
rs76611227913:108,861,022A/T—likely benign
rs213896611013:108,861,025T/C—uncertain significance
rs20111557813:108,861,031A/T—uncertain significance
rs20117644413:108,861,033G/Amissense variantpathogenic
rs250157551613:108,861,037C/T—likely benign
rs223264213:108,861,048C/T—likely benign
rs54955963313:108,861,061T/C—likely benign
rs18842209413:108,861,068G/A—uncertain significance
rs187819658013:108,861,072C/T—uncertain significance
rs155530388913:108,861,074T/C—uncertain significance
rs187819774613:108,861,076A/G—likely benign
rs97451723013:108,861,080C/T—uncertain significance
rs250157649913:108,861,088C/T—likely benign
rs74614461613:108,861,090A/G—likely benign
rs7266087013:108,861,092G/T—conflicting classifications of pathogenicity
rs213896658513:108,861,098A/G—uncertain significance
rs20036999513:108,861,099T/C—likely benign
rs250157681913:108,861,100A/G—likely benign
rs104542454413:108,861,106C/T—likely benign
rs250157706613:108,861,112C/T—likely benign
rs76929757513:108,861,118A/G—conflicting classifications of pathogenicity
rs19952653813:108,861,125G/T—uncertain significance
rs14659772113:108,861,131A/C—uncertain significance
rs76595103913:108,861,132G/A—likely benign
rs131623203513:108,861,135C/T—uncertain significance
rs187821262013:108,861,137T/C—uncertain significance
rs90752104913:108,861,147C/A—uncertain significance
rs75114950013:108,861,149T/C—uncertain significance
rs37665799813:108,861,150A/G—uncertain significance
rs75253925913:108,861,151C/T—likely benign
rs14144100313:108,861,152G/A—conflicting classifications of pathogenicity
rs187821753813:108,861,155T/C—uncertain significance
rs37649336013:108,861,157C/G—uncertain significance
rs75729996313:108,861,166G/A—likely benign
rs77910319813:108,861,168T/C—uncertain significance
rs36857678013:108,861,169G/A—likely benign
rs75541937513:108,861,172G/T—likely benign
rs57409067713:108,861,173C/A—uncertain significance
rs37543761413:108,861,174G/A—uncertain significance
rs136197516613:108,861,176C/A—uncertain significance
rs10489441913:108,861,177G/Astop gainedpathogenic
rs74871639513:108,861,182A/C—uncertain significance
rs75904214213:108,861,187G/A—likely benign
rs132797598313:108,861,190A/T—likely benign
rs250157895313:108,861,191G/A—uncertain significance
rs13789904113:108,861,192G/C—uncertain significance
rs128434498413:108,861,195A/G—uncertain significance
rs156635985113:108,861,205G/A—likely benign
rs250157931413:108,861,208A/G—likely benign
rs77255185413:108,861,212C/T—uncertain significance

Showing 100 of 575 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.