DNA2

DNA replication helicase/nuclease 2

Summary

This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

Known Variants638 total

rsidPosition (GRCh37)AllelesClassClinVar
rs180104110:70,174,707T/A—benign
rs213334816510:70,174,822T/C—uncertain significance
rs127304299410:70,174,842T/C—uncertain significance
rs213334821310:70,174,857T/C—uncertain significance
rs116271836610:70,174,862G/T—likely benign
rs249388522210:70,174,883G/A—likely benign
rs1746057110:70,174,885A/G—benign
rs11133345110:70,176,159A/G—benign
rs93905622210:70,176,454G/T—likely benign
rs249388893510:70,176,469T/C—likely benign
rs249388896110:70,176,481T/C—likely benign
rs249388897010:70,176,484A/G—likely benign
rs249388900010:70,176,489T/C—uncertain significance
rs75444465010:70,176,493C/T—likely benign
rs123107416510:70,176,496C/A—uncertain significance
rs249388907310:70,176,506G/A—uncertain significance
rs133598051110:70,176,510G/A—uncertain significance
rs56363369210:70,176,512T/G—uncertain significance
rs75664092210:70,176,518T/C—uncertain significance
rs249388918910:70,176,521A/G—uncertain significance
rs147062047310:70,176,536C/T—uncertain significance
rs53259849510:70,176,543G/A—uncertain significance
rs36895396310:70,176,548A/C—uncertain significance
rs77549603910:70,176,554T/C—uncertain significance
rs37662404810:70,176,566G/A—likely pathogenic
rs77318041010:70,176,573C/A—uncertain significance
rs76264513210:70,176,584C/T—uncertain significance
rs77402581510:70,176,587C/T—uncertain significance
rs75917437210:70,176,588G/A—uncertain significance
rs75221505110:70,176,601G/T—likely benign
rs205159587010:70,176,603G/C—uncertain significance
rs100510284910:70,176,608C/A—uncertain significance
rs55238183710:70,176,609C/T—uncertain significance
rs11413374310:70,176,881G/A—benign
rs14194809610:70,178,721C/T—benign
rs249389463110:70,178,775A/G—likely benign
rs20168859810:70,178,791A/G—uncertain significance
rs77414795810:70,178,793T/C—uncertain significance
rs149007739810:70,178,794T/G—likely benign
rs249389473810:70,178,798T/C—uncertain significance
rs75943611410:70,178,799C/T—uncertain significance
rs205163117110:70,178,800C/G—uncertain significance
rs140420998510:70,178,801T/C—uncertain significance
rs249389476010:70,178,803A/G—likely benign
rs76724950310:70,178,809T/C—likely benign
rs53820069910:70,178,815A/G—benign
rs145201931710:70,178,823C/T—uncertain significance
rs116584023210:70,178,824T/G—likely benign
rs249389484510:70,178,840T/C—uncertain significance
rs130159023210:70,178,844T/C—uncertain significance
rs20098492110:70,178,856T/C—uncertain significance
rs205163238710:70,178,867T/C—uncertain significance
rs135854938110:70,178,874C/T—uncertain significance
rs75076444910:70,178,875G/T—likely benign
rs249389498410:70,178,885A/G—uncertain significance
rs57541227110:70,178,886T/C—conflicting classifications of pathogenicity
rs74730119110:70,178,891C/T—uncertain significance
rs75520113910:70,178,892G/A—uncertain significance
rs118603413510:70,178,896C/G—uncertain significance
rs90453930910:70,178,901A/T—uncertain significance
rs249389504810:70,178,903T/C—uncertain significance
rs74820359610:70,178,906T/C—uncertain significance
rs77086165410:70,178,914C/A—uncertain significance
rs54404904710:70,178,929G/A—likely benign
rs108530772910:70,178,930T/A—uncertain significance
rs20095654710:70,178,932C/T—likely benign
rs86845213710:70,178,933G/A—uncertain significance
rs249389518610:70,178,934G/A—uncertain significance
rs249389520010:70,178,938A/G—likely benign
rs130769391610:70,178,943T/C—uncertain significance
rs249389531010:70,178,986C/T—likely benign
rs205163449410:70,178,988C/A—likely benign
rs1099815010:70,179,126A/T—benign
rs76534749210:70,179,544G/A—likely benign
rs249389666910:70,179,553A/G—likely benign
rs7556926610:70,179,565C/T—benign
rs249389671010:70,179,571T/C—likely benign
rs75279068010:70,179,580G/A—likely benign
rs249389681110:70,179,595T/C—uncertain significance
rs249389682910:70,179,597G/C—uncertain significance
rs18167924510:70,179,634G/T—likely benign
rs37168485010:70,179,641C/T—likely benign
rs74682835710:70,179,642G/A—uncertain significance
rs76137167210:70,179,667C/T—likely benign
rs205164275210:70,179,669G/C—likely benign
rs791222710:70,179,713C/G—benign
rs789748810:70,179,746G/T—benign
rs966395910:70,181,632T/Cupstream gene variant—
rs19030145410:70,181,964A/G—likely benign
rs205167421410:70,181,966A/G—likely benign
rs74677767210:70,181,968A/T—likely benign
rs75478601210:70,181,969T/A—likely benign
rs55862636710:70,181,985G/A—likely benign
rs213336159910:70,181,995A/T—uncertain significance
rs138685008510:70,182,008G/A—uncertain significance
rs205167552110:70,182,013T/C—uncertain significance
rs249390231810:70,182,018T/C—likely benign
rs249390233210:70,182,022A/G—uncertain significance
rs249390235210:70,182,027T/G—likely benign
rs77266203910:70,182,049G/T—uncertain significance

Showing 100 of 638 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.