UFC1
ubiquitin-fold modifier conjugating enzyme 1
Summary
UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs190329257 | 1:161,122,749 | A/C | upstream gene variant | — |
| rs181482336 | 1:161,122,782 | G/C | — | benign |
| rs149613806 | 1:161,123,826 | C/G | — | uncertain significance |
| rs765871516 | 1:161,123,828 | C/T | — | uncertain significance |
| rs142213109 | 1:161,123,835 | G/C | — | likely benign |
| rs1181612302 | 1:161,123,855 | G/A | — | pathogenic |
| rs115695944 | 1:161,126,754 | C/T | — | likely benign |
| rs372460141 | 1:161,126,767 | A/T | — | uncertain significance |
| rs142789001 | 1:161,126,769 | C/A | — | uncertain significance |
| rs1340277977 | 1:161,127,064 | A/G | — | uncertain significance |
| rs139173256 | 1:161,127,099 | G/A | — | uncertain significance |
| rs1553232770 | 1:161,127,468 | C/T | — | likely pathogenic |
| rs759253222 | 1:161,127,943 | A/C | — | uncertain significance |
| rs1187796935 | 1:161,127,955 | C/T | — | uncertain significance |
| rs142546576 | 1:161,128,210 | A/G | — | likely benign |
| rs772312889 | 1:161,128,250 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.