WDR48
WD repeat domain 48
Summary
The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201155629 | 3:39,093,573 | G/C | — | likely benign |
| rs35965777 | 3:39,104,597 | T/C | — | benign |
| rs369557057 | 3:39,104,604 | C/G | — | uncertain significance |
| rs778312615 | 3:39,104,620 | A/G | — | uncertain significance |
| rs9840872 | 3:39,107,361 | C/G | — | benign |
| rs768901448 | 3:39,108,031 | T/G | — | likely benign |
| rs148407227 | 3:39,108,050 | T/G | — | uncertain significance |
| rs2470885081 | 3:39,108,346 | C/T | — | uncertain significance |
| rs558216450 | 3:39,108,542 | C/T | — | likely benign |
| rs190480717 | 3:39,108,668 | C/T | intron variant | — |
| rs2470891141 | 3:39,110,291 | A/G | — | uncertain significance |
| rs576224342 | 3:39,111,231 | C/T | — | uncertain significance |
| rs1559612229 | 3:39,116,274 | T/A | — | uncertain significance |
| rs144605947 | 3:39,118,655 | C/T | — | uncertain significance |
| rs199552692 | 3:39,119,667 | T/A | — | uncertain significance |
| rs751164736 | 3:39,119,683 | C/G | — | uncertain significance |
| rs749267797 | 3:39,119,704 | G/C | — | uncertain significance |
| rs368377338 | 3:39,121,196 | C/T | — | likely benign |
| rs34585443 | 3:39,129,695 | T/C | — | likely benign |
| rs142933874 | 3:39,130,785 | A/G | — | likely benign |
| rs139870313 | 3:39,133,129 | A/G | — | benign |
| rs978810499 | 3:39,135,503 | A/G | — | likely benign |
| rs530401696 | 3:39,136,206 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.