Gene Detail

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Gene Symbol RB1
Synonyms OSRC | p105-Rb | p110-RB1 | pp110 | PPP1R130 | pRb | RB
Gene Description RB1, retinoblastoma-associated protein, 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). Inactivation of Rb1 and loss of Rb1 tumor suppressor function has been identified in many early stage cancers (PMID: 26160835).
ACMG Incidental List v2.0:
Yes, Retinoblastoma (PMID: 27854360)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function RB1 inact mut indicates that this variant results in a loss of function of the Rb1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown RB1 mutant indicates an unspecified mutation in the RB1 gene.