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RB1 - RB transcriptional corepressor 1
- Synonym(s) : PPP1R130, prepro-retinoblastoma-associated protein, protein phosphatase 1, regulatory subunit 130, RB
- Previous symbols and names : OSRC, osteosarcoma, retinoblastoma 1
- Type : gene with protein product
- Chromosomal location : 13q14.2
- OMIM: 614041
- HGNC: 9884
- UniProtKB: P06400
- Genatlas: RB1
- GenCC: RB1
- Ensembl: ENSG00000139687
- IUPHAR-DB: -
- Reactome: P06400
- LOVD: RB1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Hereditary retinoblastoma
ORPHA:357027 
- Disease-causing somatic mutation(s) in Non-hereditary retinoblastoma
ORPHA:357034 - Disease-causing somatic mutation(s) in Small cell lung cancer
ORPHA:70573 - Role in the phenotype of Monosomy 13q14
ORPHA:1587 - Candidate gene tested in Osteosarcoma
ORPHA:668
: AssessedAdditional information
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