RABEP2
rabaptin, RAB GTPase binding effector protein 2
Summary
Predicted to enable GTPase activator activity and growth factor activity. Involved in regulation of cilium assembly. Located in Golgi apparatus; cytosol; and microtubule organizing center. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs527458355 | 16:28,916,346 | C/T | — | uncertain significance |
| rs764897113 | 16:28,916,353 | G/A | — | uncertain significance |
| rs4072997 | 16:28,916,375 | C/T | — | benign |
| rs368888004 | 16:28,916,733 | C/G | synonymous variant | — |
| rs774012300 | 16:28,916,741 | C/T | — | uncertain significance |
| rs201409528 | 16:28,917,045 | C/A | — | uncertain significance |
| rs565676929 | 16:28,917,047 | C/T | — | uncertain significance |
| rs1487833542 | 16:28,917,194 | G/C | — | uncertain significance |
| rs770054902 | 16:28,917,417 | A/G | — | uncertain significance |
| rs750752217 | 16:28,917,442 | G/A | — | uncertain significance |
| rs923556055 | 16:28,917,489 | C/T | — | likely benign |
| rs774535860 | 16:28,919,971 | G/T | — | uncertain significance |
| rs1187182617 | 16:28,920,013 | G/A | — | uncertain significance |
| rs759826083 | 16:28,920,040 | G/A | — | uncertain significance |
| rs75980703 | 16:28,920,044 | T/C | — | benign |
| rs7184597 | 16:28,921,809 | T/C | regulatory region variant | — |
| rs201270750 | 16:28,922,259 | T/A | — | uncertain significance |
| rs541533862 | 16:28,922,458 | G/A | — | uncertain significance |
| rs374338088 | 16:28,922,470 | C/G | — | uncertain significance |
| rs2506397711 | 16:28,922,492 | C/G | — | uncertain significance |
| rs117217055 | 16:28,924,344 | C/T | intron variant | — |
| rs749141797 | 16:28,925,645 | G/A | — | uncertain significance |
| rs760213545 | 16:28,925,693 | C/T | — | uncertain significance |
| rs200278634 | 16:28,925,694 | G/A | — | uncertain significance |
| rs1454040797 | 16:28,925,766 | C/T | — | uncertain significance |
| rs750274682 | 16:28,925,809 | G/C | — | uncertain significance |
| rs758361119 | 16:28,925,816 | T/A | — | uncertain significance |
| rs754916909 | 16:28,925,885 | G/C | — | uncertain significance |
| rs200867018 | 16:28,925,903 | C/T | — | uncertain significance |
| rs756883721 | 16:28,926,042 | T/A | — | uncertain significance |
| rs748641478 | 16:28,926,051 | T/G | — | uncertain significance |
| rs199981658 | 16:28,926,097 | C/G | — | uncertain significance |
| rs747296984 | 16:28,931,169 | G/A | — | uncertain significance |
| rs2506420179 | 16:28,931,205 | G/C | — | uncertain significance |
| rs1400935632 | 16:28,931,224 | C/A | — | uncertain significance |
| rs6565293 | 16:28,933,248 | C/G | — | — |
| rs779009742 | 16:28,935,823 | C/T | — | uncertain significance |
| rs944999755 | 16:28,935,829 | T/C | — | uncertain significance |
| rs372658045 | 16:28,935,874 | G/C | — | uncertain significance |
| rs373832002 | 16:28,935,881 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.