UBE2Q1
ubiquitin conjugating enzyme E2 Q1
Summary
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs557762149 | 1:154,521,406 | G/A | — | — |
| rs2526312563 | 1:154,524,282 | C/T | — | uncertain significance |
| rs1217405716 | 1:154,524,586 | G/A | — | uncertain significance |
| rs2526315886 | 1:154,525,223 | C/A | — | uncertain significance |
| rs2526315967 | 1:154,525,262 | C/T | — | uncertain significance |
| rs41269917 | 1:154,528,466 | A/T | downstream gene variant | — |
| rs570034903 | 1:154,528,518 | C/G | — | — |
| rs200884226 | 1:154,530,746 | C/T | — | uncertain significance |
| rs760511660 | 1:154,530,750 | G/C | — | uncertain significance |
| rs372729486 | 1:154,530,752 | G/T | — | uncertain significance |
| rs747413918 | 1:154,530,764 | G/A | — | uncertain significance |
| rs1484714830 | 1:154,530,777 | C/A | — | uncertain significance |
| rs755410020 | 1:154,530,933 | C/A | — | uncertain significance |
| rs549444803 | 1:154,530,935 | C/T | — | uncertain significance |
| rs1453369815 | 1:154,530,995 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.