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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: |
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Molecular Profile | Protein Effect | Treatment Approaches |
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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 C221* | loss of function - predicted | HDAC Inhibitor |
RB1 C553* | loss of function - predicted | HDAC Inhibitor |
RB1 C706F | loss of function | HDAC Inhibitor |
ALK rearrange RB1 C706F TP53 loss | ||
RB1 C712R | loss of function | HDAC Inhibitor |
RB1 D718N | unknown | |
RB1 dec exp | no effect | |
RB1 del | loss of function | HDAC Inhibitor |
RB1 del SMARCB1 loss | ||
RB1 I124Rfs*6 RB1 del SMARCB1 loss | ||
RB1 E137* | loss of function - predicted | HDAC Inhibitor |
RB1 E166* | loss of function - predicted | |
RB1 E268* | loss of function - predicted | HDAC Inhibitor |
RB1 I101fs RB1 E268* RB1 V654fs RB1 T738_R775del | ||
RB1 E275* | loss of function - predicted | HDAC Inhibitor |
RB1 E280* | loss of function - predicted | HDAC Inhibitor |
RB1 E30* | loss of function - predicted | HDAC Inhibitor |
RB1 E323* | loss of function - predicted | HDAC Inhibitor |
RB1 E34* | loss of function - predicted | HDAC Inhibitor |
RB1 E40K | unknown | |
RB1 E413* | loss of function - predicted | HDAC Inhibitor |
RB1 E440* | loss of function - predicted | HDAC Inhibitor |
RB1 E440K | unknown | |
RB1 E48* | loss of function - predicted | HDAC Inhibitor |
RB1 E54* | loss of function - predicted | |
RB1 E545* | loss of function - predicted | HDAC Inhibitor |
RB1 E554* | loss of function - predicted | HDAC Inhibitor |
RB1 E675* | loss of function - predicted | HDAC Inhibitor |
RB1 E748* | loss of function - predicted | HDAC Inhibitor |
RB1 E79* | loss of function - predicted | HDAC Inhibitor |
RB1 E843* | loss of function - predicted | HDAC Inhibitor |
RB1 F526Lfs*6 | loss of function - predicted | HDAC Inhibitor |
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 | HDAC Inhibitor |
RB1 I124Rfs*6 | loss of function - predicted | HDAC Inhibitor |
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 | HDAC Inhibitor |
RB1 K240Sfs*22 TP53 R248W | ||
RB1 K319Nfs*13 | loss of function - predicted | HDAC Inhibitor |
RB1 K432* | loss of function - predicted | HDAC Inhibitor |
RB1 K614* | loss of function - predicted | HDAC Inhibitor |
RB1 K65Tfs*43 | loss of function - predicted | |
RB1 K715* | 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 L700* | loss of function - predicted | |
RB1 L797fs | loss of function - predicted | HDAC Inhibitor |
RB1 loss | loss of function | HDAC Inhibitor |
PTEN loss RB1 loss | ||
BRAF mut RB1 loss | ||
RB1 M148T | unknown | |
RB1 M379L | unknown | |
RB1 M695V | unknown | |
RB1 mut TP53 mut | ||
RB1 mutant | unknown | |
RB1 N258fs | loss of function - predicted | HDAC Inhibitor |
RB1 N849fs | loss of function - predicted | |
RB1 N849Rfs*23 | loss of function - predicted | HDAC Inhibitor |
RB1 negative | loss of function | HDAC Inhibitor |
RB1 P374A | unknown | |
RB1 P515L | unknown | |
RB1 P515T | unknown | |
RB1 positive | unknown | |
CDKN2A del RB1 pos | ||
BRAF V600E/K CDKN2A loss RB1 pos | ||
BRAF V600E CDKN2A loss CHEK2 dec exp RB1 pos | ||
RB1 Q121* | loss of function - predicted | HDAC Inhibitor |
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 Q395* | loss of function - predicted | HDAC Inhibitor |
RB1 Q444H | unknown | |
RB1 Q444L | unknown | |
RB1 Q471* | loss of function - predicted | HDAC Inhibitor |
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 Q685* | loss of function - predicted | HDAC Inhibitor |
RB1 Q702K | unknown | |
RB1 Q93* | loss of function - predicted | HDAC Inhibitor |
RB1 R251* | loss of function - predicted | HDAC Inhibitor |
RB1 R251Q | unknown | |
RB1 R254K | unknown | |
RB1 R255* | loss of function - predicted | HDAC Inhibitor |
PTEN neg RB1 R255* | ||
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 R552Q | unknown | |
RB1 R556* | loss of function - predicted | HDAC Inhibitor |
RB1 R579* | loss of function - predicted | HDAC Inhibitor |
RB1 R611* | loss of function - predicted | HDAC Inhibitor |
RB1 R621C | loss of function - predicted | HDAC Inhibitor |
RB1 R621P | unknown | |
RB1 R621S | unknown | |
RB1 R661W | unknown | |
RB1 R698I | unknown | |
RB1 R698W | loss of function - predicted | 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 S565* | 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 S834* | loss of function - predicted | HDAC Inhibitor |
RB1 T664Mfs*11 | loss of function - predicted | |
RB1 T738_R775del | unknown | |
RB1 T766fs | loss of function - predicted | HDAC Inhibitor |
RB1 T77fs | loss of function - predicted | |
RB1 V375F | unknown | |
RB1 V654fs | loss of function - predicted | HDAC Inhibitor |
RB1 V654L | unknown | |
RB1 V654M | unknown | |
RB1 W195* | loss of function - predicted | HDAC Inhibitor |
RB1 W516* | loss of function - predicted | HDAC Inhibitor |
RB1 W563L | unknown | |
RB1 W681* | loss of function - predicted | HDAC Inhibitor |
RB1 W75* | loss of function - predicted | |
RB1 W99* | loss of function - predicted | HDAC Inhibitor |
RB1 wild-type | no effect | |
RB1 wild-type TP53 mut | ||
RB1 wild-type TP53 wild-type | ||
IDH1 wild-type RB1 wild-type | ||
RB1 Y529fs | loss of function - predicted | |
RB1 Y606* | loss of function - predicted | |
RB1 Y606C | unknown | |
RB1 Y659F | unknown | |
RB1 Y728* | loss of function - predicted | HDAC Inhibitor |
RB1 Y728C | unknown | |
RB1 Y756C | unknown |