RUVBL2
RuvB like AAA ATPase 2
Summary
This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs79502742 | 19:49,500,366 | G/A | upstream gene variant | — |
| rs371296069 | 19:49,502,595 | C/T | — | uncertain significance |
| rs779609047 | 19:49,502,604 | G/A | — | uncertain significance |
| rs200430454 | 19:49,506,574 | G/A | — | uncertain significance |
| rs190676167 | 19:49,506,685 | G/A | intron variant | — |
| rs1425514806 | 19:49,507,582 | G/A | — | uncertain significance |
| rs367953120 | 19:49,510,316 | A/G | — | uncertain significance |
| rs754112742 | 19:49,510,398 | G/A | — | uncertain significance |
| rs755327144 | 19:49,510,614 | G/A | — | uncertain significance |
| rs2513771566 | 19:49,510,615 | C/A | — | uncertain significance |
| rs185487314 | 19:49,513,137 | C/T | — | benign |
| rs1062708 | 19:49,513,273 | C/A | missense variant | — |
| rs145890647 | 19:49,513,299 | C/T | — | benign |
| rs138614683 | 19:49,513,305 | C/T | — | likely benign |
| rs757826960 | 19:49,513,785 | G/A | — | uncertain significance |
| rs775566928 | 19:49,513,839 | G/A | — | uncertain significance |
| rs2513780619 | 19:49,514,282 | G/A | — | uncertain significance |
| rs190848887 | 19:49,514,320 | C/T | — | benign |
| rs376800472 | 19:49,514,541 | C/G | — | uncertain significance |
| rs78248023 | 19:49,515,171 | C/G | — | — |
| rs78537284 | 19:49,515,363 | G/A | downstream gene variant | — |
| rs75287599 | 19:49,517,140 | C/T | downstream gene variant | — |
| rs139643250 | 19:49,517,146 | C/T | downstream gene variant | — |
| rs79785970 | 19:49,517,331 | C/G | downstream gene variant | — |
| rs563379730 | 19:49,517,826 | A/T | — | uncertain significance |
| rs766414751 | 19:49,517,853 | C/T | — | uncertain significance |
| rs767467214 | 19:49,518,354 | C/T | — | uncertain significance |
| rs76784576 | 19:49,518,359 | C/T | — | benign |
| rs368906878 | 19:49,518,396 | C/T | — | uncertain significance |
| rs753307 | 19:49,518,484 | C/T | downstream gene variant | — |
| rs2513791133 | 19:49,519,079 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.