HELB
DNA helicase B
Summary
This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142161059 | 12:66,696,400 | C/T | — | uncertain significance |
| rs7308068 | 12:66,696,706 | C/T | regulatory region variant | — |
| rs10784523 | 12:66,697,400 | T/C | regulatory region variant | — |
| rs549613910 | 12:66,698,565 | C/T | — | uncertain significance |
| rs997622110 | 12:66,698,625 | G/A | — | uncertain significance |
| rs1472624936 | 12:66,698,632 | A/T | — | uncertain significance |
| rs201128308 | 12:66,698,652 | C/T | — | uncertain significance |
| rs376823726 | 12:66,698,701 | C/G | — | uncertain significance |
| rs749169621 | 12:66,698,736 | G/A | — | uncertain significance |
| rs775619811 | 12:66,698,765 | G/C | — | uncertain significance |
| rs2499489479 | 12:66,698,773 | G/C | — | uncertain significance |
| rs762260958 | 12:66,698,790 | A/G | — | uncertain significance |
| rs2499489664 | 12:66,698,835 | A/C | — | uncertain significance |
| rs1971302 | 12:66,698,954 | C/G | intron variant | — |
| rs780083932 | 12:66,700,161 | C/T | — | uncertain significance |
| rs138859028 | 12:66,700,197 | G/A | — | uncertain significance |
| rs775045720 | 12:66,700,218 | G/C | — | uncertain significance |
| rs113022875 | 12:66,700,220 | T/A | — | uncertain significance |
| rs772628710 | 12:66,700,221 | C/T | — | uncertain significance |
| rs2053477681 | 12:66,700,251 | A/G | — | uncertain significance |
| rs776965102 | 12:66,700,272 | C/T | — | uncertain significance |
| rs35138454 | 12:66,703,507 | C/T | — | benign |
| rs149629233 | 12:66,703,645 | G/A | — | likely benign |
| rs755473288 | 12:66,703,849 | G/A | — | uncertain significance |
| rs144350290 | 12:66,703,855 | G/A | — | likely benign |
| rs151185089 | 12:66,703,862 | T/C | — | uncertain significance |
| rs1206510365 | 12:66,703,930 | G/C | — | uncertain significance |
| rs145110411 | 12:66,703,975 | G/A | — | uncertain significance |
| rs769875630 | 12:66,704,074 | C/T | — | uncertain significance |
| rs992507847 | 12:66,704,143 | T/G | — | uncertain significance |
| rs754676652 | 12:66,704,167 | C/T | — | uncertain significance |
| rs116424321 | 12:66,704,168 | G/A | — | benign |
| rs771324513 | 12:66,704,215 | G/T | — | uncertain significance |
| rs2053530847 | 12:66,704,284 | C/A | — | uncertain significance |
| rs1420459018 | 12:66,704,320 | G/A | — | uncertain significance |
| rs201633650 | 12:66,707,868 | G/A | — | uncertain significance |
| rs1463511567 | 12:66,707,911 | A/G | — | uncertain significance |
| rs144507658 | 12:66,709,055 | G/A | — | uncertain significance |
| rs75324469 | 12:66,709,105 | A/G | — | benign |
| rs762129088 | 12:66,709,141 | C/T | — | uncertain significance |
| rs7137719 | 12:66,709,148 | T/C | — | uncertain significance |
| rs201815365 | 12:66,709,150 | G/A | — | uncertain significance |
| rs780475854 | 12:66,709,154 | A/G | — | uncertain significance |
| rs759993364 | 12:66,712,503 | A/T | — | uncertain significance |
| rs2499512731 | 12:66,712,509 | A/G | — | uncertain significance |
| rs772072453 | 12:66,716,526 | G/A | — | uncertain significance |
| rs775561366 | 12:66,716,533 | G/A | — | uncertain significance |
| rs2053686033 | 12:66,716,548 | C/T | — | uncertain significance |
| rs763931667 | 12:66,717,807 | G/A | — | uncertain significance |
| rs143275731 | 12:66,717,834 | A/G | — | uncertain significance |
| rs746415381 | 12:66,717,909 | C/T | — | uncertain significance |
| rs200763833 | 12:66,717,936 | G/A | — | likely benign |
| rs1396653883 | 12:66,718,770 | C/G | — | uncertain significance |
| rs1625394 | 12:66,721,541 | A/T | — | — |
| rs139082430 | 12:66,724,979 | C/T | — | uncertain significance |
| rs771426839 | 12:66,725,021 | C/T | — | uncertain significance |
| rs1283218484 | 12:66,725,022 | G/A | — | uncertain significance |
| rs369098624 | 12:66,725,040 | T/C | — | uncertain significance |
| rs758048496 | 12:66,725,042 | G/A | — | uncertain significance |
| rs1025406786 | 12:66,725,195 | C/A | — | uncertain significance |
| rs532858164 | 12:66,725,205 | C/T | — | uncertain significance |
| rs149273898 | 12:66,725,266 | C/T | — | benign |
| rs781585272 | 12:66,725,277 | C/T | — | uncertain significance |
| rs73329073 | 12:66,725,301 | T/C | — | benign |
| rs1306998906 | 12:66,725,314 | G/T | — | uncertain significance |
| rs2499539563 | 12:66,731,791 | C/G | — | uncertain significance |
| rs370398244 | 12:66,731,818 | A/G | — | uncertain significance |
| rs2499539639 | 12:66,731,841 | C/G | — | uncertain significance |
| rs754242417 | 12:66,731,862 | A/G | — | uncertain significance |
| rs1427655751 | 12:66,731,863 | C/T | — | uncertain significance |
| rs199608348 | 12:66,731,878 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.