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RB1 - Gene Detail

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Gene Symbol RB1
Synonyms OSRC | p105-Rb | p110-RB1 | pp110 | PPP1R130 | pRb | RB
Gene Description RB1, RB transcriptional corepressor 1, is a key negative regulator of the G1 to S transition during cell division (PMID: 15084261) and also plays a role in cell differentiation, survival, senescence, epigenetic regulation, and genome stability (PMID: 21295686, PMID: 23359405, PMID: 22293180) and is a downstream target of CDK4 and CDK6 (PMID: 31174843). Inactivation of Rb1 and loss of Rb1 tumor suppressor function has been identified in many early stage cancers (PMID: 26160835) and is recurrent in retinoblastoma (PMID: 32222358).
ACMG Incidental List v3.0:
Yes, Retinoblastoma (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5925 13 13q14.2 NM_000321 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Molecular Profile Protein Effect Treatment Approaches
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries