RABEP1
rabaptin, RAB GTPase binding effector protein 1
Summary
Enables protein domain specific binding activity and protein homodimerization activity. Involved in vesicle-mediated transport. Located in cytosol; endocytic vesicle; and endosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62073753 | 17:5,185,041 | C/A | — | — |
| rs1318223017 | 17:5,185,786 | C/A | — | uncertain significance |
| rs2507585905 | 17:5,185,803 | T/C | — | likely benign |
| rs62073759 | 17:5,196,382 | C/G | — | — |
| rs35005573 | 17:5,202,839 | G/T | regulatory region variant | — |
| rs2641260 | 17:5,203,268 | C/A | regulatory region variant | — |
| rs571475342 | 17:5,207,882 | A/G | — | — |
| rs2507671830 | 17:5,212,023 | A/C | — | uncertain significance |
| rs2507758238 | 17:5,235,408 | T/G | — | uncertain significance |
| rs759138228 | 17:5,238,508 | C/T | — | uncertain significance |
| rs780161541 | 17:5,238,559 | G/A | — | uncertain significance |
| rs747127150 | 17:5,238,584 | G/C | — | uncertain significance |
| rs200718785 | 17:5,238,596 | C/G | — | uncertain significance |
| rs779964235 | 17:5,241,354 | C/T | — | uncertain significance |
| rs1487070658 | 17:5,241,374 | G/A | — | uncertain significance |
| rs1597368382 | 17:5,241,408 | A/C | — | uncertain significance |
| rs747680965 | 17:5,241,418 | G/C | — | uncertain significance |
| rs8080981 | 17:5,248,301 | T/A | intron variant | — |
| rs372923791 | 17:5,250,091 | G/A | — | uncertain significance |
| rs760033403 | 17:5,250,100 | C/A | — | uncertain significance |
| rs2507828183 | 17:5,253,881 | C/T | — | uncertain significance |
| rs62075136 | 17:5,259,656 | C/G | — | — |
| rs12603344 | 17:5,262,529 | T/G | — | — |
| rs2507864658 | 17:5,264,509 | T/G | — | uncertain significance |
| rs111228095 | 17:5,264,586 | G/A | — | likely benign |
| rs187351051 | 17:5,264,613 | C/T | — | likely benign |
| rs1390475334 | 17:5,264,768 | C/T | — | uncertain significance |
| rs374566844 | 17:5,264,806 | A/T | — | uncertain significance |
| rs780539445 | 17:5,266,248 | G/A | — | uncertain significance |
| rs759303885 | 17:5,268,496 | A/G | — | uncertain significance |
| rs757825581 | 17:5,268,516 | G/A | — | uncertain significance |
| rs371641660 | 17:5,268,530 | C/A | — | uncertain significance |
| rs145437104 | 17:5,270,010 | G/A | intron variant | — |
| rs2507895016 | 17:5,271,669 | C/G | — | uncertain significance |
| rs777760971 | 17:5,271,672 | C/T | — | uncertain significance |
| rs368640006 | 17:5,271,677 | G/A | — | uncertain significance |
| rs2507895508 | 17:5,271,750 | T/C | — | uncertain significance |
| rs72634030 | 17:5,272,580 | C/A | intron variant | — |
| rs557833363 | 17:5,272,909 | G/A | — | — |
| rs202219375 | 17:5,276,703 | T/G | — | uncertain significance |
| rs200444793 | 17:5,276,744 | A/G | — | uncertain significance |
| rs8067917 | 17:5,278,307 | G/T | — | — |
| rs555576717 | 17:5,280,465 | G/A | — | uncertain significance |
| rs763311520 | 17:5,280,477 | G/A | — | uncertain significance |
| rs201050515 | 17:5,283,696 | A/T | — | uncertain significance |
| rs112097489 | 17:5,284,680 | C/T | — | benign |
| rs3026115 | 17:5,285,222 | C/T | downstream gene variant | — |
| rs372729268 | 17:5,286,463 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.