UBE2I
ubiquitin conjugating enzyme E2 I
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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs566752820 | 16:1,358,035 | A/G | — | — |
| rs12920764 | 16:1,362,187 | C/T | intron variant | — |
| rs4984806 | 16:1,364,281 | T/C | — | benign |
| rs11553473 | 16:1,364,300 | G/A | missense variant | — |
| rs4610 | 16:1,364,365 | A/G | — | benign |
| rs11248866 | 16:1,365,341 | G/A | downstream gene variant | — |
| rs537821715 | 16:1,367,697 | C/T | — | — |
| rs909916 | 16:1,370,303 | T/C | — | benign |
| rs113690116 | 16:1,372,070 | A/C | — | — |
| rs8052688 | 16:1,372,183 | G/C | intron variant | — |
| rs2548142480 | 16:1,374,745 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.