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
A10fs frameshift loss of function - predicted RB1 A10fs results in a change in the amino acid sequence of the Rb1 protein beginning at 10 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A10fs is predicted to lead to a loss of Rb1 protein function.
A11fs frameshift loss of function - predicted RB1 A11fs results in a change in the amino acid sequence of the Rb1 protein beginning at 11 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A11fs is predicted to lead to a loss of Rb1 protein function.
I101fs frameshift loss of function - predicted RB1 I101fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 101 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I101fs is predicted to lead to a loss Rb1 protein function.
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.
L523fs frameshift loss of function - predicted RB1 L523fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 523 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), L523fs is predicted to lead to a loss Rb1 protein function.
L797fs frameshift loss of function - predicted RB1 L797fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 797 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), L797fs is predicted to lead to a loss of Rb1 protein function.
mutant unknown unknown RB1 mutant indicates an unspecified mutation in the RB1 gene.
N258fs frameshift loss of function - predicted RB1 N258fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 258 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), N258fs is predicted to lead to a loss of Rb1 protein function.
N849fs frameshift loss of function - predicted RB1 N849fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 849 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), N849fs is predicted to lead to a loss of Rb1 protein function.
Q344fs frameshift loss of function - predicted RB1 Q344fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 344 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q344fs is predicted to lead to a loss of Rb1 protein function.
R552fs frameshift loss of function - predicted RB1 R552fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 552 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R552fs is predicted to lead to a loss Rb1 protein function.
R7fs frameshift loss of function - predicted RB1 R7fs results in a change in the amino acid sequence of the Rb1 protein beginning at 7 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R7fs is predicted to lead to a loss of Rb1 protein function.
S463fs frameshift loss of function - predicted RB1 S463fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 463 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), S463fs is predicted to lead to a loss of Rb1 protein function.
T766fs frameshift loss of function - predicted RB1 T766fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 766 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), T766fs is predicted to lead to a loss of Rb1 protein function.
T77fs frameshift loss of function - predicted RB1 T77fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 77 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), T77fs is predicted to lead to a loss of Rb1 protein function.
V654fs frameshift loss of function - predicted RB1 V654fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 654 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), V654fs is predicted to lead to a loss Rb1 protein function.
Y529fs frameshift loss of function - predicted RB1 Y529fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 529 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Y529fs is predicted to lead to a loss Rb1 protein function.