HELQ
helicase, POLQ like
Summary
HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]
Known Variants85 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17006794 | 4:84,328,632 | C/T | — | benign |
| rs199982034 | 4:84,328,635 | C/T | — | uncertain significance |
| rs369369955 | 4:84,328,697 | T/C | — | uncertain significance |
| rs752466353 | 4:84,337,923 | T/A | — | uncertain significance |
| rs2530041356 | 4:84,337,957 | T/C | — | uncertain significance |
| rs765652272 | 4:84,337,974 | C/T | — | uncertain significance |
| rs376209774 | 4:84,342,756 | C/G | — | uncertain significance |
| rs1340589562 | 4:84,342,829 | T/G | — | uncertain significance |
| rs200137034 | 4:84,342,867 | T/C | — | uncertain significance |
| rs773869238 | 4:84,342,883 | C/T | — | uncertain significance |
| rs201729951 | 4:84,342,897 | G/C | — | likely benign |
| rs144287404 | 4:84,347,243 | A/G | — | likely benign |
| rs151152881 | 4:84,348,745 | T/C | — | likely benign |
| rs113520876 | 4:84,348,765 | T/A | — | benign |
| rs745569615 | 4:84,348,772 | T/C | — | uncertain significance |
| rs776776755 | 4:84,348,868 | T/C | — | uncertain significance |
| rs2530081568 | 4:84,350,706 | A/G | — | uncertain significance |
| rs1259036393 | 4:84,350,776 | T/C | — | uncertain significance |
| rs372487292 | 4:84,350,778 | A/G | — | uncertain significance |
| rs115975794 | 4:84,350,840 | C/T | — | benign |
| rs59255439 | 4:84,350,870 | A/G | — | benign |
| rs148390983 | 4:84,353,354 | A/C | — | uncertain significance |
| rs760039192 | 4:84,353,394 | G/C | — | uncertain significance |
| rs1720489292 | 4:84,358,071 | A/G | — | uncertain significance |
| rs374461819 | 4:84,358,114 | T/C | — | uncertain significance |
| rs766033215 | 4:84,358,134 | T/C | — | uncertain significance |
| rs752179740 | 4:84,358,150 | G/C | — | uncertain significance |
| rs75013052 | 4:84,358,158 | C/T | — | benign |
| rs2530110816 | 4:84,358,192 | T/G | — | uncertain significance |
| rs1415569625 | 4:84,358,236 | T/C | — | uncertain significance |
| rs767278047 | 4:84,361,006 | A/G | — | likely benign |
| rs758801143 | 4:84,361,044 | C/T | — | uncertain significance |
| rs1193279344 | 4:84,361,052 | T/C | — | uncertain significance |
| rs6817280 | 4:84,361,071 | G/A | — | benign |
| rs74573079 | 4:84,362,451 | A/G | — | benign |
| rs56253838 | 4:84,362,452 | T/C | — | benign |
| rs148668655 | 4:84,362,466 | T/G | — | benign |
| rs142206532 | 4:84,362,474 | C/T | — | benign |
| rs369858157 | 4:84,364,728 | T/C | — | uncertain significance |
| rs7665103 | 4:84,364,751 | A/G | — | benign |
| rs181780148 | 4:84,364,763 | C/T | — | likely benign |
| rs369659384 | 4:84,367,204 | T/G | — | likely benign |
| rs12651246 | 4:84,367,605 | G/C | — | — |
| rs766300148 | 4:84,368,188 | T/C | — | uncertain significance |
| rs181099449 | 4:84,368,192 | G/C | — | likely benign |
| rs2530161281 | 4:84,370,058 | A/G | — | uncertain significance |
| rs1251269708 | 4:84,370,063 | A/G | — | uncertain significance |
| rs149816747 | 4:84,370,068 | T/C | — | likely benign |
| rs764392725 | 4:84,370,084 | G/A | — | uncertain significance |
| rs13141136 | 4:84,370,091 | A/G | — | benign |
| rs4693089 | 4:84,373,622 | A/C | — | — |
| rs2530181416 | 4:84,374,333 | A/G | — | benign |
| rs558684771 | 4:84,374,392 | T/G | — | likely benign |
| rs199625601 | 4:84,374,435 | T/C | — | uncertain significance |
| rs1721500794 | 4:84,374,465 | T/C | — | likely benign |
| rs1494961 | 4:84,374,480 | C/T | missense variant | benign |
| rs781770844 | 4:84,374,495 | C/A | — | uncertain significance |
| rs768052792 | 4:84,374,615 | T/C | — | uncertain significance |
| rs750492907 | 4:84,374,620 | A/C | — | uncertain significance |
| rs1721518677 | 4:84,374,647 | G/T | — | uncertain significance |
| rs17006837 | 4:84,374,692 | A/G | — | benign |
| rs762211906 | 4:84,374,705 | C/A | — | uncertain significance |
| rs773527179 | 4:84,374,714 | G/A | — | uncertain significance |
| rs376983769 | 4:84,374,738 | C/T | — | uncertain significance |
| rs765554777 | 4:84,374,873 | C/T | — | likely benign |
| rs546970063 | 4:84,374,897 | C/T | — | uncertain significance |
| rs781237364 | 4:84,374,915 | T/C | — | uncertain significance |
| rs749922034 | 4:84,374,917 | G/T | — | uncertain significance |
| rs755687252 | 4:84,374,921 | T/C | — | likely benign |
| rs747458653 | 4:84,374,951 | A/T | — | uncertain significance |
| rs146158643 | 4:84,374,980 | T/A | — | uncertain significance |
| rs140155835 | 4:84,375,015 | T/C | — | likely benign |
| rs201666480 | 4:84,375,020 | G/A | — | likely benign |
| rs2530198466 | 4:84,376,582 | G/A | — | uncertain significance |
| rs747239755 | 4:84,376,623 | A/T | — | likely benign |
| rs150006112 | 4:84,376,697 | G/A | — | likely benign |
| rs147685170 | 4:84,376,711 | T/C | — | uncertain significance |
| rs146273386 | 4:84,376,739 | G/C | — | benign |
| rs138939487 | 4:84,376,741 | G/A | — | benign |
| rs760392452 | 4:84,376,793 | G/C | — | uncertain significance |
| rs141700135 | 4:84,376,794 | T/C | — | likely benign |
| rs150540222 | 4:84,376,800 | T/C | — | likely benign |
| rs779062760 | 4:84,376,828 | G/A | — | uncertain significance |
| rs2530202109 | 4:84,376,831 | A/C | — | uncertain significance |
| rs748123074 | 4:84,376,842 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.