RILP
Rab interacting lysosomal protein
Summary
This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141024997 | 17:1,549,767 | C/A | — | uncertain significance |
| rs374979618 | 17:1,549,807 | C/T | — | likely benign |
| rs745585158 | 17:1,549,822 | G/C | — | uncertain significance |
| rs760251391 | 17:1,549,836 | C/A | — | uncertain significance |
| rs1910584232 | 17:1,549,848 | C/A | — | uncertain significance |
| rs1381583615 | 17:1,550,273 | C/T | — | uncertain significance |
| rs752460126 | 17:1,551,181 | G/A | — | uncertain significance |
| rs148486587 | 17:1,551,190 | G/A | — | uncertain significance |
| rs61735420 | 17:1,551,224 | G/A | synonymous variant | — |
| rs371651184 | 17:1,551,244 | G/A | — | uncertain significance |
| rs145398789 | 17:1,551,762 | G/C | — | uncertain significance |
| rs1368943772 | 17:1,552,109 | C/T | — | uncertain significance |
| rs748536542 | 17:1,552,113 | G/T | — | uncertain significance |
| rs756488820 | 17:1,552,184 | C/T | — | uncertain significance |
| rs2543702086 | 17:1,552,214 | G/A | — | uncertain significance |
| rs1251818421 | 17:1,552,225 | C/G | — | uncertain significance |
| rs879321726 | 17:1,552,265 | T/A | — | uncertain significance |
| rs1445593671 | 17:1,552,505 | C/T | — | uncertain significance |
| rs764605176 | 17:1,552,558 | C/G | — | uncertain significance |
| rs1465320467 | 17:1,552,707 | C/A | — | uncertain significance |
| rs2543704476 | 17:1,552,739 | G/A | — | uncertain significance |
| rs2543704660 | 17:1,552,790 | A/C | — | uncertain significance |
| rs780241616 | 17:1,552,876 | C/G | — | uncertain significance |
| rs770135146 | 17:1,552,887 | C/T | — | uncertain significance |
| rs1910862040 | 17:1,552,959 | C/T | — | uncertain significance |
| rs771403785 | 17:1,552,978 | C/A | — | uncertain significance |
| rs774810689 | 17:1,552,989 | G/A | — | uncertain significance |
| rs200009462 | 17:1,552,993 | C/T | — | uncertain significance |
| rs775111929 | 17:1,553,050 | C/T | — | uncertain significance |
| rs377028195 | 17:1,553,060 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.