RNF5
ring finger protein 5
Summary
The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17493811 | 6:32,145,399 | C/G | regulatory region variant | — |
| rs377192058 | 6:32,146,334 | C/T | — | likely benign |
| rs758750126 | 6:32,146,365 | A/G | — | uncertain significance |
| rs774393683 | 6:32,146,424 | T/C | — | uncertain significance |
| rs9469089 | 6:32,146,657 | G/A | — | — |
| rs41268928 | 6:32,147,157 | G/T | — | — |
| rs1261885582 | 6:32,147,826 | C/T | — | uncertain significance |
| rs1062070 | 6:32,148,031 | A/G | synonymous variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.