| GENE NAME | RAB3GAP1 |
| CHROMOSOME | 2 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000115839 |
| UNIPROT ACCESSION NUMBER | Q15042 |
| GO MOLECULAR FUNCTION | ['small GTPase binding', 'protein binding', 'guanyl-nucleotide exchange factor activity', 'GTPase activator activity'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-199991; R-HSA-5653656; R-HSA-6811436; R-HSA-6811442; R-HSA-8856688; R-HSA-8876198; R-HSA-9007101 |
| 3 combinations linked to RAB3GAP1 | OLI1425; OLI1431; OLI1398 |
| 3 variants linked to RAB3GAP1 | RAB3GAP1:c.1233_1235del, p.Leu412del; RAB3GAP1:c.2938G>A, p.Ala980Thr; RAB3GAP1:c.1006C>T, p.Arg336Cys |
| 1 disease linked to RAB3GAP1 | Hypogonadotropic hypogonadism with absent puberty phenotype |