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|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:||
|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.|