| GENE NAME | PRF1 |
| CHROMOSOME | 10 |
| ENSEMBL ID | ENSG00000180644 |
| ENTREZ ID | 5551 |
| UNIPROT ACCESSION NUMBER | P14222 |
| GO MOLECULAR FUNCTION | identical protein binding; protein binding; calcium ion binding |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa05332; hsa04650; hsa04210; hsa05320; hsa04940; hsa05330; hsa05416 |
| 22 combinations linked to PRF1 | OLI536; OLI528; OLI531; OLI538; OLI535; OLI527; OLI534; OLI522; OLI533; OLI057; OLI525; OLI539; OLI055; OLI532; OLI052; OLI524; OLI530; OLI523; OLI529; OLI526; OLI537; OLI058 |
| 12 variants linked to PRF1 | PRF1:c.503G>A, p.Ser168Asn; PRF1:c.853_855delAAG, p.Lys285del; PRF1:c.674G>A, p.Arg225Gln; PRF1:c.305G>T, p.Cys102Phe; PRF1:c.1310C>T, p.Ala437Val; PRF1:c.272C>T, p.Ala91Val; PRF1:c.992C>T, p.Ser331Leu; PRF1:c.1229G>A, p.Arg410Gln; PRF1:c.10C>T, p.Arg4Cys; PRF1:c.50delT, p.Leu17ArgfsTer34; PRF1:c.445G>A, p.Gly149Ser; PRF1:c.655T>A, p.Tyr219Asn |
| 2 diseases linked to PRF1 | Familial hemophagocytic lymphohistiocytosis; Primary hemophagocytic lymphohistiocytosis |