NSMCE1
NSE1 component of SMC5/6 complex
Summary
Enables protein dimerization activity and ubiquitin protein ligase activity. Involved in DNA damage response. Located in nucleoplasm. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181117005 | 16:27,236,495 | G/C | — | uncertain significance |
| rs774697446 | 16:27,237,076 | C/T | — | uncertain significance |
| rs1265797977 | 16:27,237,138 | C/G | — | uncertain significance |
| rs200970237 | 16:27,238,081 | G/A | — | uncertain significance |
| rs758155389 | 16:27,238,093 | G/A | — | uncertain significance |
| rs2083700612 | 16:27,238,094 | T/C | — | uncertain significance |
| rs562727717 | 16:27,238,099 | C/T | — | uncertain significance |
| rs376178703 | 16:27,238,129 | C/T | — | uncertain significance |
| rs3211442 | 16:27,244,363 | G/C | — | uncertain significance |
| rs549268272 | 16:27,245,565 | T/C | — | likely benign |
| rs34939984 | 16:27,245,712 | C/A | — | — |
| rs766791420 | 16:27,246,530 | G/A | — | uncertain significance |
| rs769578125 | 16:27,268,864 | C/T | — | uncertain significance |
| rs887043637 | 16:27,268,876 | T/C | — | uncertain significance |
| rs770865488 | 16:27,268,884 | C/T | — | uncertain significance |
| rs9940555 | 16:27,270,607 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.