RUVBL1
RuvB like AAA ATPase 1
Summary
This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2473085062 | 3:127,800,146 | C/T | — | uncertain significance |
| rs13063604 | 3:127,804,730 | G/T | — | — |
| rs11709377 | 3:127,815,670 | C/A | intron variant | — |
| rs7632756 | 3:127,817,508 | C/G | — | — |
| rs758610032 | 3:127,817,765 | C/T | — | uncertain significance |
| rs757175017 | 3:127,819,445 | C/T | — | uncertain significance |
| rs141069437 | 3:127,820,407 | C/T | — | uncertain significance |
| rs1943428853 | 3:127,831,842 | C/G | — | uncertain significance |
| rs200354703 | 3:127,831,845 | T/C | — | uncertain significance |
| rs78143412 | 3:127,832,482 | A/C | intron variant | — |
| rs7650365 | 3:127,834,003 | G/A | intron variant | — |
| rs377058632 | 3:127,838,248 | C/T | — | uncertain significance |
| rs147411501 | 3:127,840,510 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.