UBOX5
U-box domain containing 5
Summary
This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs950917852 | 20:3,090,766 | G/A | — | uncertain significance |
| rs752379442 | 20:3,090,772 | C/T | — | uncertain significance |
| rs201389796 | 20:3,090,789 | G/A | — | likely benign |
| rs371199833 | 20:3,090,792 | C/T | — | likely benign |
| rs1467216052 | 20:3,090,793 | G/A | — | uncertain significance |
| rs748372333 | 20:3,090,813 | A/T | — | uncertain significance |
| rs34606078 | 20:3,090,884 | A/C | — | benign |
| rs748128271 | 20:3,090,900 | T/C | — | uncertain significance |
| rs1372502364 | 20:3,095,977 | G/T | — | uncertain significance |
| rs1421698998 | 20:3,096,110 | G/A | — | uncertain significance |
| rs146683455 | 20:3,100,761 | G/A | intron variant | — |
| rs998446735 | 20:3,102,173 | T/A | — | uncertain significance |
| rs746442167 | 20:3,102,233 | G/A | — | uncertain significance |
| rs766981340 | 20:3,102,273 | G/A | — | uncertain significance |
| rs779690705 | 20:3,102,305 | C/T | — | uncertain significance |
| rs2514258897 | 20:3,102,322 | G/T | — | uncertain significance |
| rs149560239 | 20:3,102,338 | G/C | — | uncertain significance |
| rs1403604880 | 20:3,102,345 | G/T | — | uncertain significance |
| rs768718812 | 20:3,102,471 | T/C | — | uncertain significance |
| rs2066340248 | 20:3,102,578 | G/A | — | uncertain significance |
| rs754999501 | 20:3,102,680 | G/A | — | uncertain significance |
| rs139291959 | 20:3,102,716 | C/T | — | uncertain significance |
| rs775178319 | 20:3,102,717 | G/A | — | uncertain significance |
| rs748747964 | 20:3,102,815 | T/C | — | uncertain significance |
| rs140714335 | 20:3,102,891 | T/G | — | uncertain significance |
| rs906436850 | 20:3,103,130 | T/C | — | uncertain significance |
| rs2422853 | 20:3,110,912 | T/A | — | — |
| rs139632621 | 20:3,124,711 | T/C | downstream gene variant | — |
| rs41304822 | 20:3,131,247 | C/A | coding sequence variant | — |
| rs860735 | 20:3,132,621 | T/G | — | — |
| rs79818747 | 20:3,139,717 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.