RAD18
RAD18 E3 ubiquitin protein ligase
Summary
The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757759853 | 3:8,923,088 | C/T | — | uncertain significance |
| rs193921 | 3:8,931,038 | A/C | — | — |
| rs138212603 | 3:8,940,620 | A/G | — | uncertain significance |
| rs774670962 | 3:8,940,635 | G/C | — | uncertain significance |
| rs2470207417 | 3:8,940,671 | G/A | — | uncertain significance |
| rs2470210273 | 3:8,944,093 | G/C | — | uncertain significance |
| rs200199070 | 3:8,944,099 | T/A | — | uncertain significance |
| rs200851398 | 3:8,944,139 | C/A | — | uncertain significance |
| rs556528980 | 3:8,944,160 | T/C | — | uncertain significance |
| rs773283766 | 3:8,955,354 | G/C | — | uncertain significance |
| rs660158 | 3:8,970,083 | T/C | — | — |
| rs752417478 | 3:8,977,611 | T/A | — | uncertain significance |
| rs759233033 | 3:8,977,683 | C/T | — | uncertain significance |
| rs200605306 | 3:8,977,719 | G/A | — | conflicting classifications of pathogenicity |
| rs773677079 | 3:8,981,266 | G/A | — | uncertain significance |
| rs764925159 | 3:8,981,320 | C/T | — | uncertain significance |
| rs779466926 | 3:8,983,183 | G/A | — | conflicting classifications of pathogenicity |
| rs138707389 | 3:8,983,237 | C/T | — | uncertain significance |
| rs537783446 | 3:8,983,267 | G/A | — | uncertain significance |
| rs1373140219 | 3:8,983,279 | G/A | — | uncertain significance |
| rs141788084 | 3:8,983,324 | G/A | — | uncertain significance |
| rs761986048 | 3:8,983,362 | C/A | — | uncertain significance |
| rs1462129060 | 3:8,983,363 | C/G | — | uncertain significance |
| rs755498145 | 3:8,983,408 | A/C | — | uncertain significance |
| rs187941554 | 3:8,987,233 | G/A | intron variant | — |
| rs202202824 | 3:8,990,237 | T/C | — | uncertain significance |
| rs749280130 | 3:8,990,242 | C/G | — | uncertain significance |
| rs139885992 | 3:9,000,619 | G/T | — | uncertain significance |
| rs748602310 | 3:9,000,622 | G/T | — | uncertain significance |
| rs1200018838 | 3:9,000,658 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.