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 v2.0:
Yes, Retinoblastoma (PMID: 27854360)

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Molecular Profile Protein Effect Treatment Approaches
RB1 A10fs loss of function - predicted HDAC Inhibitor
RB1 A11fs loss of function - predicted HDAC Inhibitor
RB1 A488V unknown
RB1 A496V unknown
RB1 A525G unknown
RB1 C553* loss of function - predicted HDAC Inhibitor
RB1 C706F loss of function - predicted HDAC Inhibitor
RB1 C712R loss of function
RB1 D718N unknown
RB1 dec exp no effect
RB1 del loss of function
RB1 E137* loss of function - predicted HDAC Inhibitor
RB1 E268* loss of function - predicted
RB1 I101fs RB1 E268* RB1 V654fs RB1 T738_R775del
RB1 E280* loss of function - predicted HDAC Inhibitor
RB1 E30* loss of function - predicted HDAC Inhibitor
RB1 E413* loss of function - predicted HDAC Inhibitor
RB1 E440K unknown
RB1 E48* loss of function - predicted HDAC Inhibitor
RB1 E545* loss of function - predicted HDAC Inhibitor
RB1 E554* loss of function - predicted HDAC Inhibitor
RB1 E675* loss of function - predicted
RB1 E748* loss of function - predicted HDAC Inhibitor
RB1 E843* loss of function - predicted
RB1 F755I unknown
RB1 G435* loss of function - predicted HDAC Inhibitor
RB1 G449E unknown
RB1 G449R unknown
RB1 H483R unknown
RB1 H483Y unknown
RB1 I101fs loss of function - predicted
RB1 I348V unknown
RB1 I388S unknown
RB1 I680T unknown
RB1 I724N unknown
RB1 I752S unknown
RB1 I782M unknown
RB1 inact mut loss of function HDAC Inhibitor
CDKN2A pos RB1 inact mut
RB1 K202* loss of function - predicted HDAC Inhibitor
RB1 K240Sfs*22 loss of function - predicted
RB1 K319Nfs*13 loss of function - predicted HDAC Inhibitor
RB1 K715E unknown
RB1 K740* loss of function - predicted HDAC Inhibitor
RB1 K765* loss of function - predicted HDAC Inhibitor
RB1 K844S unknown
RB1 K913R unknown
RB1 K94N unknown
RB1 L199* loss of function - predicted HDAC Inhibitor
RB1 L523fs loss of function - predicted HDAC Inhibitor
RB1 L550I unknown
RB1 L607I loss of function - predicted HDAC Inhibitor
RB1 L657P unknown
RB1 L662P unknown
RB1 L688R unknown
RB1 L797fs loss of function - predicted HDAC Inhibitor
RB1 loss loss of function HDAC Inhibitor
BRAF mut RB1 loss
NOTCH1 wild-type RB1 loss
RB1 M148T unknown
RB1 M379L unknown
RB1 M695V unknown
RB1 mutant unknown
RB1 negative loss of function
RB1 P374A unknown
RB1 P515L unknown
RB1 P515T unknown
RB1 positive unknown
CDKN2A del RB1 pos
RB1 Q121H unknown
RB1 Q217* loss of function - predicted HDAC Inhibitor
RB1 Q257* loss of function - predicted HDAC Inhibitor
RB1 Q257R unknown
RB1 Q266* loss of function - predicted HDAC Inhibitor
RB1 Q344* loss of function - predicted HDAC Inhibitor
RB1 Q344fs loss of function - predicted HDAC Inhibitor
RB1 Q354* loss of function - predicted HDAC Inhibitor
RB1 Q444H unknown
RB1 Q444L unknown
RB1 Q504* loss of function - predicted HDAC Inhibitor
RB1 Q575* loss of function - predicted HDAC Inhibitor
RB1 Q62* loss of function - predicted HDAC Inhibitor
RB1 Q639* loss of function - predicted HDAC Inhibitor
RB1 Q702K unknown
RB1 R251* loss of function - predicted HDAC Inhibitor
RB1 R254K unknown
RB1 R255* loss of function - predicted HDAC Inhibitor
RB1 R255Q unknown
RB1 R272* loss of function - predicted HDAC Inhibitor
RB1 R272I unknown
RB1 R320* loss of function - predicted HDAC Inhibitor
RB1 R320L unknown
RB1 R358* loss of function - predicted HDAC Inhibitor
RB1 R445* loss of function - predicted HDAC Inhibitor
RB1 R451C unknown
RB1 R451H unknown
RB1 R455* loss of function - predicted HDAC Inhibitor
RB1 R467* loss of function - predicted HDAC Inhibitor
RB1 R552* loss of function - predicted HDAC Inhibitor
RB1 R552fs loss of function - predicted HDAC Inhibitor
RB1 R556* loss of function - predicted HDAC Inhibitor
RB1 R579* loss of function - predicted HDAC Inhibitor
RB1 R621C loss of function - predicted HDAC Inhibitor
RB1 R621P unknown
RB1 R621S unknown
RB1 R661W no effect - predicted
RB1 R698I unknown
RB1 R698W loss of function HDAC Inhibitor
RB1 R787* loss of function - predicted HDAC Inhibitor
RB1 R787Q unknown
RB1 R798Q unknown
RB1 R798W unknown
RB1 R7fs loss of function - predicted HDAC Inhibitor
RB1 R876C unknown
RB1 S127I unknown
RB1 S463fs loss of function - predicted HDAC Inhibitor
RB1 S567L unknown
RB1 S612C unknown
RB1 S634* loss of function - predicted HDAC Inhibitor
RB1 S751Y unknown
RB1 S758L unknown
RB1 S816* loss of function - predicted HDAC Inhibitor
RB1 T738_R775del unknown
RB1 V375F unknown
RB1 V654fs loss of function - predicted
RB1 V654L unknown
RB1 V654M unknown
RB1 W195* loss of function - predicted HDAC Inhibitor
RB1 W563L unknown
RB1 W681* loss of function - predicted HDAC Inhibitor
RB1 W99* loss of function - predicted HDAC Inhibitor
RB1 wild-type no effect
NOTCH1 mut RB1 wild-type
NOTCH1 wild-type RB1 wild-type
RB1 Y659F unknown
RB1 Y728* loss of function - predicted HDAC Inhibitor
RB1 Y728C unknown
RB1 Y756C unknown