IFI30
IFI30 lysosomal thiol reductase
Summary
The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs887945 | 19:18,282,895 | A/G | downstream gene variant | — |
| rs11668950 | 19:18,282,940 | G/A | downstream gene variant | — |
| rs999291819 | 19:18,284,750 | C/G | — | uncertain significance |
| rs2513578351 | 19:18,285,851 | C/A | — | uncertain significance |
| rs11554159 | 19:18,285,944 | G/A | missense variant | — |
| rs565630324 | 19:18,286,021 | G/A | — | uncertain significance |
| rs1387191049 | 19:18,286,136 | G/A | — | uncertain significance |
| rs147477761 | 19:18,286,185 | A/G | — | uncertain significance |
| rs1568643863 | 19:18,286,414 | G/A | — | uncertain significance |
| rs773697080 | 19:18,286,477 | G/C | — | uncertain significance |
| rs563441583 | 19:18,286,487 | A/T | — | uncertain significance |
| rs755004731 | 19:18,288,016 | G/A | — | uncertain significance |
| rs759814847 | 19:18,288,038 | A/C | — | uncertain significance |
| rs766567273 | 19:18,288,548 | C/T | — | uncertain significance |
| rs761666660 | 19:18,288,659 | G/A | — | uncertain significance |
| rs1430691491 | 19:18,288,692 | A/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.