RABGEF1
RAB guanine nucleotide exchange factor 1
Summary
RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12672640 | 7:66,203,010 | G/A | — | — |
| rs1297328831 | 7:66,235,227 | T/G | — | — |
| rs566365627 | 7:66,237,060 | G/A | — | likely benign |
| rs373681548 | 7:66,240,351 | G/T | — | uncertain significance |
| rs2536432900 | 7:66,248,673 | G/A | — | uncertain significance |
| rs2536433465 | 7:66,248,722 | A/T | — | uncertain significance |
| rs752265977 | 7:66,248,818 | A/G | — | uncertain significance |
| rs781399666 | 7:66,260,564 | C/G | — | uncertain significance |
| rs773885514 | 7:66,264,327 | C/T | — | uncertain significance |
| rs565375236 | 7:66,264,353 | A/G | — | uncertain significance |
| rs750481695 | 7:66,270,160 | G/A | — | uncertain significance |
| rs766825667 | 7:66,270,174 | T/G | — | uncertain significance |
| rs144779294 | 7:66,270,205 | A/G | — | likely benign |
| rs1788173227 | 7:66,270,211 | T/A | — | uncertain significance |
| rs2536686097 | 7:66,270,270 | A/G | — | uncertain significance |
| rs753077071 | 7:66,270,323 | G/C | — | likely benign |
| rs1045590872 | 7:66,270,324 | C/T | — | uncertain significance |
| rs777685946 | 7:66,273,942 | C/T | — | uncertain significance |
| rs775413472 | 7:66,273,966 | C/T | — | uncertain significance |
| rs373821794 | 7:66,273,992 | G/T | — | uncertain significance |
| rs200112167 | 7:66,274,027 | A/G | — | uncertain significance |
| rs1286322295 | 7:66,274,168 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.