| GENE NAME | RFC1 |
| CHROMOSOME | 4 |
| ENSEMBL ID | ENSG00000035928 |
| ENTREZ ID | 5981 |
| UNIPROT ACCESSION NUMBER | P35251 |
| GO MOLECULAR FUNCTION | ATP binding; enzyme activator activity |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-69186; R-HSA-5655862; R-HSA-110314; R-HSA-69109; R-HSA-73886; R-HSA-5651801; R-HSA-73893; R-HSA-110313; R-HSA-6782135; R-HSA-5685942; R-HSA-1640170; R-HSA-69306; R-HSA-5696400; R-HSA-6782210; R-HSA-5656169; R-HSA-5696397; R-HSA-73933; R-HSA-5656121; R-HSA-73884; R-HSA-6781827; R-HSA-5696398; R-HSA-157579; R-HSA-110312; R-HSA-69278; R-HSA-73894; R-HSA-5693538; R-HSA-69242; R-HSA-174417; R-HSA-69091; R-HSA-69239; hsa03030; R-HSA-69190; hsa03430; R-HSA-5693567; hsa03420; R-HSA-5696399; R-HSA-110320; R-HSA-110373; R-HSA-174411; R-HSA-180786; R-HSA-5693532 |
| 1 combination linked to RFC1 | OLI755 |
| 1 variant linked to RFC1 | RFC1:c.724C>G, p.Arg242Gly |
| 1 disease linked to RFC1 | Isolated anencephaly |