Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score![]() | Literature evidence |
PTPN23 | 14406 | COSM142828, | skin | malignant_melanoma | p.R1339* | Substitution - Nonsense | 3:47411909-47411909, | PATHOGENIC | 0.93364 | 19074898 |
PTPN23 | 14406 | COSM107364, | skin | malignant_melanoma | p.P1258L | Substitution - Missense | 3:47411571-47411571, | PATHOGENIC | 0.90924 | 19074898 |
PTPN23 | 14406 | COSM41157, | central_nervous_system | glioma | p.M1287fs*1 | Deletion - Frameshift | 3:47411655-47411665, | Info_not_available | Info_not_available | 18772396 |