RILPL2
Rab interacting lysosomal protein like 2
Summary
This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16917496 | 12:123,893,830 | C/G | — | — |
| rs28642812 | 12:123,893,910 | T/C | downstream gene variant | — |
| rs28569936 | 12:123,895,263 | A/T | — | — |
| rs11562637 | 12:123,897,747 | A/C | downstream gene variant | — |
| rs780646616 | 12:123,900,454 | G/A | — | uncertain significance |
| rs919451604 | 12:123,900,455 | A/G | — | uncertain significance |
| rs28481863 | 12:123,902,361 | G/T | — | — |
| rs2547726339 | 12:123,907,630 | G/C | — | uncertain significance |
| rs1175669490 | 12:123,907,631 | C/T | — | uncertain significance |
| rs1672760413 | 12:123,907,694 | G/C | — | uncertain significance |
| rs28376121 | 12:123,908,290 | T/C | intron variant | — |
| rs144742334 | 12:123,915,089 | G/C | — | uncertain significance |
| rs780077202 | 12:123,915,169 | G/A | — | uncertain significance |
| rs774646266 | 12:123,915,181 | A/G | — | uncertain significance |
| rs1566093209 | 12:123,915,191 | T/C | — | likely benign |
| rs1278764616 | 12:123,920,642 | G/A | — | uncertain significance |
| rs1879794597 | 12:123,920,781 | G/C | — | uncertain significance |
| rs867333849 | 12:123,920,847 | C/A | — | uncertain significance |
| rs139435173 | 12:123,920,887 | C/G | — | likely benign |
| rs28582538 | 12:123,921,897 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.