RABEPK
Rab9 effector protein with kelch motifs
Summary
Predicted to be involved in receptor-mediated endocytosis and vesicle docking involved in exocytosis. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs762143063 | 9:127,965,299 | C/A | — | uncertain significance |
| rs864882 | 9:127,968,109 | C/T | intron variant | — |
| rs772798927 | 9:127,969,907 | C/A | — | uncertain significance |
| rs55938451 | 9:127,969,929 | G/C | — | uncertain significance |
| rs770086390 | 9:127,969,953 | G/T | — | uncertain significance |
| rs753869792 | 9:127,969,986 | A/G | — | uncertain significance |
| rs1195159644 | 9:127,969,991 | A/G | — | uncertain significance |
| rs146362316 | 9:127,975,532 | G/A | intron variant | — |
| rs139098107 | 9:127,975,693 | C/T | — | uncertain significance |
| rs368153260 | 9:127,975,735 | C/T | — | uncertain significance |
| rs1392827433 | 9:127,975,742 | G/C | — | uncertain significance |
| rs1831060692 | 9:127,980,426 | T/A | — | — |
| rs17253010 | 9:127,980,923 | A/G | intron variant | — |
| rs11788700 | 9:127,982,381 | G/A | intron variant | — |
| rs144370574 | 9:127,982,827 | C/A | — | uncertain significance |
| rs1012614603 | 9:127,982,851 | G/T | — | uncertain significance |
| rs746870481 | 9:127,982,857 | C/A | — | uncertain significance |
| rs200820954 | 9:127,982,859 | C/T | — | uncertain significance |
| rs745904755 | 9:127,982,868 | A/G | — | uncertain significance |
| rs1831261286 | 9:127,982,902 | A/G | — | uncertain significance |
| rs201854182 | 9:127,982,946 | G/A | — | uncertain significance |
| rs150172916 | 9:127,982,976 | G/A | — | uncertain significance |
| rs1831879287 | 9:127,990,225 | A/G | — | uncertain significance |
| rs1361208897 | 9:127,990,231 | C/T | — | uncertain significance |
| rs369057277 | 9:127,990,237 | C/G | — | uncertain significance |
| rs145592986 | 9:127,990,240 | G/A | — | uncertain significance |
| rs142347258 | 9:127,990,266 | G/A | — | uncertain significance |
| rs1363233722 | 9:127,990,275 | C/A | — | uncertain significance |
| rs775040921 | 9:127,990,287 | G/A | — | uncertain significance |
| rs771726198 | 9:127,990,305 | A/G | — | uncertain significance |
| rs35704262 | 9:127,992,875 | T/C | downstream gene variant | — |
| rs1832277796 | 9:127,994,895 | C/G | — | uncertain significance |
| rs756503499 | 9:127,994,936 | C/G | — | uncertain significance |
| rs775509776 | 9:127,994,995 | C/T | — | uncertain significance |
| rs780853354 | 9:127,996,000 | C/T | — | uncertain significance |
| rs1832386845 | 9:127,996,008 | C/A | — | uncertain significance |
| rs759767703 | 9:127,996,057 | C/T | — | likely benign |
| rs140178009 | 9:127,996,086 | T/C | — | uncertain significance |
| rs2538457181 | 9:127,996,117 | A/G | — | likely benign |
| rs372701297 | 9:127,996,186 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.