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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.
A488V missense unknown RB1 A488V lies within domain A of the Rb1 protein (UniProt.org). A488V has been identified in sequencing studies (PMID: 27203738), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2024).
A496V missense unknown RB1 A496V lies within domain A of the Rb1 protein (UniProt.org). A496V has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2024).
A525G missense unknown RB1 A525G lies within domain A of the Rb1 protein (UniProt.org). A525G has been identified in the scientific literature (PMID: 23532519), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
C221* nonsense loss of function - predicted RB1 C221* results in a premature truncation of the Rb1 protein at amino acid 221 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C221* is predicted to lead to a loss of Rb1 protein function.
C553* nonsense loss of function - predicted RB1 C553* results in a premature truncation of the Rb1 protein at amino acid 553 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C553* is predicted to lead to a loss of Rb1 protein function.
C706F missense loss of function RB1 C706F lies within domain B of the Rb1 protein (UniProt.org). C706F confers a loss of function to Rb1 as demonstrated by loss of Rb1 phosphorylation (PMID: 2168563), decreased transcriptional repression in a reporter assay (PMID: 8524800), failure to bind E2f (PMID: 1531329) or SV40 T antigen (PMID: 2288878), and failure to inhibit colony formation in cultured cells (PMID: 9342358).
C712R missense loss of function RB1 C712R lies within domain B of the Rb1 protein (UniProt.org). C712R results in a loss of Rb1 protein function as demonstrated by reduced Rb1 phosphorylation and inability to bind E2f1 in in vitro assays, and reduced interaction with large T antigen in an yeast assay (PMID: 10486322).
D718N missense unknown RB1 D718N lies within domain B of the Rb1 protein (UniProt.org). D718N has been identified in the scientific literature (PMID: 12402348), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
dec exp none no effect RB1 dec exp indicates decreased expression of the Rb1 protein and/or mRNA. However, the mechanism causing the decrease is unspecified.
del deletion loss of function RB1 del indicates a deletion of the RB1 gene.
E137* nonsense loss of function - predicted RB1 E137* results in a premature truncation of the Rb1 protein at amino acid 137 of 928. Due to the loss of all known functional domains (UniProt.org), E137* is predicted to lead to a loss of Rb1 protein function.
E166* nonsense loss of function - predicted RB1 E166* results in a premature truncation of the Rb1 protein at amino acid 166 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E166* is predicted to lead to a loss of Rb1 protein function.
E268* nonsense loss of function - predicted RB1 E268* results in a premature truncation of the Rb1 protein at amino acid 268 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E268* is predicted to lead to a loss of Rb1 protein function.
E275* nonsense loss of function - predicted RB1 E275* results in a premature truncation of the Rb1 protein at amino acid 275 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E275* is predicted to lead to a loss of Rb1 protein function.
E280* nonsense loss of function - predicted RB1 E280* results in a premature truncation of the Rb1 protein at amino acid 280 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E280* is predicted to lead to a loss of Rb1 protein function.
E30* nonsense loss of function - predicted RB1 E30* results in a premature truncation of the Rb1 protein at amino acid 30 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E30* is predicted to lead to a loss of Rb1 protein function.
E323* nonsense loss of function - predicted RB1 E323* results in a premature truncation of the Rb1 protein at amino acid 323 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E323* is predicted to lead to a loss of Rb1 protein function.
E34* nonsense loss of function - predicted RB1 E34* results in a premature truncation of the Rb1 protein at amino acid 34 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E34* is predicted to lead to a loss of Rb1 protein function.
E40K missense unknown RB1 E40K does not lie within any known functional domains of the Rb1 protein (UniProt.org). E40K has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2024).
E413* nonsense loss of function - predicted RB1 E413* results in a premature truncation of the Rb1 protein at amino acid 413 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E413* is predicted to lead to a loss of Rb1 protein function.
E440* nonsense loss of function - predicted RB1 E440* results in a premature truncation of the Rb1 protein at amino acid 440 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E440* is predicted to lead to a loss of Rb1 protein function.
E440K missense unknown RB1 E440K lies within domain A of the Rb1 protein (UniProt.org). E440K has been identified in sequencing studies (PMID: 24121792, PMID: 32218800), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
E48* nonsense loss of function - predicted RB1 E48* results in a premature truncation of the Rb1 protein at amino acid 48 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E48* is predicted to lead to a loss of Rb1 protein function.
E54* nonsense loss of function - predicted RB1 E54* results in a premature truncation of the Rb1 protein at amino acid 54 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E54* is predicted to lead to a loss of Rb1 protein function.
E545* nonsense loss of function - predicted RB1 E545* results in a premature truncation of the Rb1 protein at amino acid 545 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E545* is predicted to lead to a loss of Rb1 protein function.
E554* nonsense loss of function - predicted RB1 E554* results in a premature truncation of the Rb1 protein at amino acid 554 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E554* is predicted to lead to a loss of Rb1 protein function.
E675* nonsense loss of function - predicted RB1 E675* results in a premature truncation of the Rb1 protein at amino acid 675 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E675* is predicted to lead to a loss of Rb1 protein function.
E748* nonsense loss of function - predicted RB1 E748* results in a premature truncation of the Rb1 protein at amino acid 748 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E748* is predicted to lead to a loss of Rb1 protein function.
E79* nonsense loss of function - predicted RB1 E79* results in a premature truncation of the Rb1 protein at amino acid 79 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E79* is predicted to lead to a loss of Rb1 protein function.
E843* nonsense loss of function - predicted RB1 E843* results in a premature truncation of the Rb1 protein at amino acid 843 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E843* is predicted to lead to a loss of Rb1 protein function.
F526Lfs*6 frameshift loss of function - predicted RB1 F526Lfs*6 indicates a shift in the reading frame starting at amino acid 526 and terminating 6 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), F526Lfs*6 is predicted to lead to a loss of Rb1 protein function.
F755I missense unknown RB1 F755I lies within domain B of the Rb1 protein (UniProt.org). F755I has been identified in the scientific literature (PMID: 22084214), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
G435* nonsense loss of function - predicted RB1 G435* results in a premature truncation of the Rb1 protein at amino acid 435 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), G435* is predicted to lead to a loss of Rb1 protein function.
G449E missense unknown RB1 G449E lies within domain A of the Rb1 protein (UniProt.org). G449E has been identified in the scientific literature (PMID: 23532519, PMID: 15605413, PMID: 29997966), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
G449R missense unknown RB1 G449R lies within domain A of the Rb1 protein (UniProt.org). G449R has been identified in sequencing studies (PMID: 26373574, PMID: 30578357, PMID: 24688104), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
H483R missense unknown RB1 H483R lies within domain A of the Rb1 protein (UniProt.org). H483R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
H483Y missense unknown RB1 H483Y lies within domain A of the Rb1 protein (UniProt.org). H483Y has been identified in the scientific literature (PMID: 29236940, PMID: 33539671), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
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.
I124Rfs*6 frameshift loss of function - predicted RB1 I124Rfs*6 indicates a shift in the reading frame starting at amino acid 124 and terminating 6 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I124Rfs*6 is predicted to lead to a loss of Rb1 function.
I348V missense unknown RB1 I348V does not lie within any known functional domains of the Rb1 protein (UniProt.org). I348V has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
I388S missense unknown RB1 I388S lies within domain A of the Rb1 protein (UniProt.org). I388S has been identified in sequencing studies (PMID: 19593635, PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
I680T missense unknown RB1 I680T lies within domain B of the Rb1 protein (UniProt.org). I680T has been identified in the scientific literature (PMID: 29525983, PMID: 27741505, PMID: 30148116), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
I724N missense unknown RB1 I724N lies within domain B of the Rb1 protein (UniProt.org). I724N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
I752S missense unknown RB1 I752S lies within domain B of the Rb1 protein (UniProt.org). I752S has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
I782M missense unknown RB1 I782M lies within domain C of the Rb1 protein (UniProt.org). I782M has been identified in sequencing studies (PMID: 27294619, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
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.
K202* nonsense loss of function - predicted RB1 K202* results in a premature truncation of the Rb1 protein at amino acid 202 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K202* is predicted to lead to a loss of Rb1 protein function.
K240Sfs*22 frameshift loss of function - predicted RB1 K240Sfs*22 indicates a shift in the reading frame starting at amino acid 240 and terminating 22 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K240Sfs*22 is predicted to lead to a loss of Rb1 function.
K319Nfs*13 frameshift loss of function - predicted RB1 K319Nfs*13 indicates a shift in the reading frame starting at amino acid 319 and terminating 13 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K319Nfs*13 is predicted to lead to a loss of Rb1 function.
K432* nonsense loss of function - predicted RB1 K432* results in a premature truncation of the Rb1 protein at amino acid 432 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), K432* is predicted to lead to a loss of Rb1 protein function.
K614* nonsense loss of function - predicted RB1 K614* results in a premature truncation of the Rb1 protein at amino acid 614 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), K614* is predicted to lead to a loss of Rb1 protein function.
K65Tfs*43 frameshift loss of function - predicted RB1 K65Tfs*43 indicates a shift in the reading frame starting at amino acid 65 and terminating 43 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K65Tfs*43 is predicted to lead to a loss of Rb1 protein function.
K715* nonsense loss of function - predicted RB1 K715* results in a premature truncation of the Rb1 protein at amino acid 715 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), K715* is predicted to lead to a loss of Rb1 protein function.
K715E missense unknown RB1 K715E lies within domain B of the Rb1 protein (UniProt.org). K715E has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
K740* nonsense loss of function - predicted RB1 K740* results in a premature truncation of the Rb1 protein at amino acid 740 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), K740* is predicted to lead to a loss of Rb1 protein function.
K765* nonsense loss of function - predicted RB1 K765* results in a premature truncation of the Rb1 protein at amino acid 765 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), K765* is predicted to lead to a loss of Rb1 protein function.
K844S missense unknown RB1 K844S lies within domain C of the Rb1 protein (UniProt.org). K844S has been identified in the scientific literature (PMID: 31045832), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
K913R missense unknown RB1 K913R lies within domain C of the Rb1 protein (UniProt.org). K913R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
K94N missense unknown RB1 K94N does not lie within any known functional domains of the Rb1 protein (UniProt.org). K94N has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
L199* nonsense loss of function - predicted RB1 L199* results in a premature truncation of the Rb1 protein at amino acid 199 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L199* is predicted to lead to a loss of Rb1 protein function.
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.
L550I missense unknown RB1 L550I lies within domain A of the Rb1 protein (UniProt.org). L550I has been identified in sequencing studies (PMID: 27294619, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
L607I missense loss of function - predicted RB1 L607I lies within the spacer region of the Rb1 protein (UniProt.org). L607I results in nuclear localization similar to wild-type Rb1 but decreased protein stability and reduced ability to induce apoptosis in cultured cells (PMID: 20594292), and therefore, is predicted to lead to a loss of Rb1 protein function.
L657P missense unknown RB1 L657P lies within domain B of the Rb1 protein (UniProt.org). L657P has been identified in the scientific literature (PMID: 10882758), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
L662P missense unknown RB1 L662P lies within domain B of the Rb1 protein (UniProt.org). L662P has been identified in the scientific literature (PMID: 10671068), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
L688R missense unknown RB1 L688R lies within domain B of the Rb1 protein (UniProt.org). L688R has been identified in the scientific literature (PMID: 17960112, PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
L700* nonsense loss of function - predicted RB1 L700* results in a premature truncation of the Rb1 protein at amino acid 700 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), L700* is predicted to lead to a loss of 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.
loss unknown loss of function RB1 loss indicates loss of the RB1 gene, mRNA, and protein.
M148T missense unknown RB1 M148T does not lie within any known functional domains of the Rb1 protein (UniProt.org). M148T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
M379L missense unknown RB1 M379L lies within domain A of the Rb1 protein (UniProt.org). M379L has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
M695V missense unknown RB1 M695V lies within domain B of the Rb1 protein (UniProt.org). M695V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
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.
N849Rfs*23 frameshift loss of function - predicted RB1 N849Rfs*23 indicates a shift in the reading frame starting at amino acid 849 and terminating 23 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), N849Rfs*23 is predicted to lead to a loss of Rb1 protein function.
negative unknown loss of function RB1 negative indicates a lack of the RB1 gene, mRNA, and/or protein.
P374A missense unknown RB1 P374A lies within domain A of the Rb1 protein (UniProt.org). P374A has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
P515L missense unknown RB1 P515L lies within domain A of the Rb1 protein (UniProt.org). P515L has been identified in the scientific literature (PMID: 23243591), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
P515T missense unknown RB1 P515T lies within domain A of the Rb1 protein (UniProt.org). P515T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
positive unknown unknown RB1 positive indicates the presence of the RB1 gene, mRNA, and/or protein.
Q121* nonsense loss of function - predicted RB1 Q121* results in a premature truncation of the Rb1 protein at amino acid 121 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q121* is predicted to lead to a loss of Rb1 protein function.
Q121H missense unknown RB1 Q121H does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q121H has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Q217* nonsense loss of function - predicted RB1 Q217* results in a premature truncation of the Rb1 protein at amino acid 217 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q217* is predicted to lead to a loss of Rb1 protein function.
Q257* nonsense loss of function - predicted RB1 Q257* results in a premature truncation of the Rb1 protein at amino acid 257 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q257* is predicted to lead to a loss of Rb1 protein function.
Q257R missense unknown RB1 Q257R does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q257R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Q266* nonsense loss of function - predicted RB1 Q266* results in a premature truncation of the Rb1 protein at amino acid 266 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q266* is predicted to lead to a loss of Rb1 protein function.
Q344* nonsense loss of function - predicted RB1 Q344* results in a premature truncation of the Rb1 protein at amino acid 344 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q344* 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.
Q354* nonsense loss of function - predicted RB1 Q354* results in a premature truncation of the Rb1 protein at amino acid 354 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q354* is predicted to lead to a loss of Rb1 protein function.
Q395* nonsense loss of function - predicted RB1 Q395* results in a premature truncation of the Rb1 protein at amino acid 395 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Q395* is predicted to lead to a loss of Rb1 protein function.
Q444H missense unknown RB1 Q444H lies within domain A of the Rb1 protein (UniProt.org). Q444H has been identified in sequencing studies (PMID: 24791139), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Q444L missense unknown RB1 Q444L lies within domain A of the Rb1 protein (UniProt.org). Q444L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Q471* nonsense loss of function - predicted RB1 Q471* results in a premature truncation of the Rb1 protein at amino acid 471 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Q471* is predicted to lead to a loss of Rb1 protein function.
Q504* nonsense loss of function - predicted RB1 Q504* results in a premature truncation of the Rb1 protein at amino acid 504 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Q504* is predicted to lead to a loss of Rb1 protein function.
Q575* nonsense loss of function - predicted RB1 Q575* results in a premature truncation of the Rb1 protein at amino acid 575 of 928. Due to the loss of multiple functional domains (UniProt.org), Q575* is predicted to lead to a loss of Rb1 protein function.
Q62* nonsense loss of function - predicted RB1 Q62* results in a premature truncation of the Rb1 protein at amino acid 62 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q62* is predicted to lead to a loss of Rb1 protein function.
Q639* nonsense loss of function - predicted RB1 Q639* results in a premature truncation of the Rb1 protein at amino acid 639 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Q639* is predicted to lead to a loss of Rb1 protein function.
Q685* nonsense loss of function - predicted RB1 Q685* results in a premature truncation of the Rb1 protein at amino acid 685 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Q685* is predicted to lead to a loss of Rb1 protein function.
Q702K missense unknown RB1 Q702K lies within domain B of the Rb1 protein (UniProt.org). Q702K has been identified in sequencing studies (PMID: 27147599, PMID: 27582626), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Q93* nonsense loss of function - predicted RB1 Q93* results in a premature truncation of the Rb1 protein at amino acid 93 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q93* is predicted to lead to a loss of Rb1 protein function.
R251* nonsense loss of function - predicted RB1 R251* results in a premature truncation of the Rb1 protein at amino acid 251 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R251* is predicted to lead to a loss of Rb1 protein function.
R251Q missense unknown RB1 R251Q does not lie within any known functional domains of the Rb1 protein (UniProt.org). R251Q has been identified in sequencing studies (PMID: 31745173), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R254K missense unknown RB1 R254K does not lie within any known functional domains of the Rb1 protein (UniProt.org). R254K has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R255* nonsense loss of function - predicted RB1 R255* results in a premature truncation of the Rb1 protein at amino acid 255 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R255* is predicted to lead to a loss of Rb1 protein function.
R255Q missense unknown RB1 R255Q does not lie within any known functional domains of the Rb1 protein (UniProt.org). R255Q has been identified in sequencing studies (PMID: 30610106), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R272* nonsense loss of function - predicted RB1 R272* results in a premature truncation of the Rb1 protein at amino acid 272 of 928 (UniProt.org). Due to the loss of all functional domains (UniProt.org), R272* is predicted to lead to a loss of Rb1 protein function.
R272I missense unknown RB1 R272I does not lie within any known functional domains of the Rb1 protein (UniProt.org). R272I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R320* nonsense loss of function - predicted RB1 R320* results in a premature truncation of the Rb1 protein at amino acid 320 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R320* is predicted to lead to a loss of Rb1 protein function.
R320L missense unknown RB1 R320L does not lie within any known functional domains of the Rb1 protein (UniProt.org). R320L has been identified in sequencing studies (PMID: 26343386, PMID: 28167203), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R358* nonsense loss of function - predicted RB1 R358* results in a premature truncation of the Rb1 protein at amino acid 358 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R358* is predicted to lead to a loss of Rb1 protein function.
R445* nonsense loss of function - predicted RB1 R445* results in a premature truncation of the Rb1 protein at amino acid 445 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R445* is predicted to lead to a loss of Rb1 protein function.
R451C missense unknown RB1 R451C lies within domain A of the Rb1 protein (UniProt.org). R451C has been identified in sequencing studies (PMID: 26373574, PMID: 25801821, PMID: 24376576), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R451H missense unknown RB1 R451H lies within domain A of the Rb1 protein (UniProt.org). R451H has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R455* nonsense loss of function - predicted RB1 R455* results in a premature truncation of the Rb1 protein at amino acid 455 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R455* is predicted to lead to a loss of Rb1 protein function.
R467* nonsense loss of function - predicted RB1 R467* results in a premature truncation of the Rb1 protein at amino acid 467 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R467* is predicted to lead to a loss of Rb1 protein function.
R552* nonsense loss of function - predicted RB1 R552* results in a premature truncation of the Rb1 protein at amino acid 552 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R552* 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.
R552Q missense unknown RB1 R552Q lies within domain A of the Rb1 protein (UniProt.org). R552Q has been identified in sequencing studies (PMID: 30239046), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2024).
R556* nonsense loss of function - predicted RB1 R556* results in a premature truncation of the Rb1 protein at amino acid 556 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R556* is predicted to lead to a loss of Rb1 protein function.
R579* nonsense loss of function - predicted RB1 R579* results in a premature truncation of the Rb1 protein at amino acid 579 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R579* is predicted to lead to a loss of Rb1 protein function.
R611* nonsense loss of function - predicted RB1 R611* results in a premature truncation of the Rb1 protein at amino acid 611 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R611* is predicted to lead to a loss of Rb1 protein function.
R621C missense loss of function - predicted RB1 R621C lies within the spacer region of the Rb1 protein (UniProt.org). R621C results in nuclear localization similar to wild-type Rb1 but decreased ability to induce apoptosis in cultured cells (PMID: 20594292), and therefore, is predicted to lead to a loss of Rb1 protein function.
R621P missense unknown RB1 R621P lies within the spacer region of the Rb1 protein (UniProt.org). R621P has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R621S missense unknown RB1 R621S lies within the spacer region of the Rb1 protein (UniProt.org). R621S has been identified in the scientific literature (PMID: 24791139, PMID: 32020225, PMID: 33854152), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R661W missense unknown RB1 R661W lies within the B domain of the Rb1 protein (UniProt.org). R661W results in growth suppression similar to wild-type Rb1 (PMID: 9342358, PMID: 15688068) but results in loss of transcriptional repression (PMID: 8524800), decreased induction of G0/G1 block and p27 expression, reduced downregulation of cyclin E in cultured cells (PMID: 17163992), decreased binding to large T antigen in a yeast two-hybrid assay (PMID: 9342358), and fails to bind E2f1 in in vitro assays (PMID: 9342358, PMID: 15688068), and therefore, its effect on Rb1 protein function is unknown.
R698I missense unknown RB1 R698I lies within domain B of the Rb1 protein (UniProt.org). R698I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R698W missense loss of function - predicted RB1 R698W lies within domain B of the Rb1 protein (UniProt.org). R698W results in decreased apoptotic function and protein stability (PMID: 20594292), and therefore, is predicted to lead to a loss of Rb1 protein function.
R787* nonsense loss of function - predicted RB1 R787* results in a premature truncation of the Rb1 protein within domain B at amino acid 787 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R787* is predicted to lead to a loss of Rb1 protein function.
R787Q missense unknown RB1 R787Q lies within domain C of the Rb1 protein (UniProt.org). R787Q has been identified in the scientific literature (PMID: 15605413, PMID: 16269091), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R798Q missense unknown RB1 R798Q lies within domain C of the Rb1 protein (UniProt.org). R798Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
R798W missense unknown RB1 R798W lies within domain C of the Rb1 protein (UniProt.org). R798W has been identified in the scientific literature (PMID: 9194486, PMID: 31411343, PMID: 33807452), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
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.
R876C missense unknown RB1 R876C lies within domain C of the Rb1 protein (UniProt.org). R876C has been identified in sequencing studies (PMID: 19372580), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2024).
S127I missense unknown RB1 S127I does not lie within any known functional domains of the Rb1 protein (UniProt.org). S127I has been identified in sequencing studies (PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
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.
S565* nonsense loss of function - predicted RB1 S565* results in a premature truncation of the Rb1 protein at amino acid 565 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), S565* is predicted to lead to a loss of Rb1 protein function.
S567L missense unknown RB1 S567L lies within domain A of the Rb1 protein (UniProt.org). S567L has been identified in the scientific literature (PMID: 10671068, PMID: 28580595), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
S612C missense unknown RB1 S612C lies within the spacer region of the Rb1 protein (UniProt.org). S612C has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
S634* nonsense loss of function - predicted RB1 S634* results in a premature truncation of the Rb1 protein at amino acid 634 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), S634* is predicted to lead to a loss of Rb1 protein function.
S751Y missense unknown RB1 S751Y lies within domain B of the Rb1 protein (UniProt.org). S751Y has been identified in the scientific literature (PMID: 34456592), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2024).
S758L missense unknown RB1 S758L lies within domain B of the Rb1 protein (UniProt.org). S758L has been identified in the scientific literature (PMID: 26324360), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
S816* nonsense loss of function - predicted RB1 S816* results in a premature truncation of the Rb1 protein at amino acid 816 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), S816* is predicted to lead to a loss of Rb1 protein function.
S834* nonsense loss of function - predicted RB1 S834* results in a premature truncation of the Rb1 protein at amino acid 834 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), S834* is predicted to lead to a loss of Rb1 protein function.
T664Mfs*11 frameshift loss of function - predicted RB1 T664Mfs*11 indicates a shift in the reading frame starting at amino acid 664 and terminating 11 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), T664Mfs*11 is predicted to lead to a loss of Rb1 function.
T738_R775del deletion unknown RB1 T738_R775del results in the deletion of 38 amino acids in domain B of the Rb1 protein from amino acids 738 to 775 (UniProt.org). T738_R775del has been identified in the scientific literature (PMID: 29236940), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
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.
V375F missense unknown RB1 V375F lies within domain A of the Rb1 protein (UniProt.org). V375F has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
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.
V654L missense unknown RB1 V654L lies within domain B of the Rb1 protein (UniProt.org). V654L has been identified in sequencing studies (PMID: 21615945, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
V654M missense unknown RB1 V654M lies within domain B of the Rb1 protein (UniProt.org). V654M has been identified in sequencing studies (PMID: 36550020, PMID: 27283993, PMID: 26527677), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
W195* nonsense loss of function - predicted RB1 W195* results in a premature truncation of the Rb1 protein at amino acid 195 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W195* is predicted to lead to a loss of Rb1 protein function.
W516* nonsense loss of function - predicted RB1 W516* results in a premature truncation of the Rb1 protein at amino acid 516 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), W516* is predicted to lead to a loss of Rb1 protein function.
W563L missense unknown RB1 W563L lies within domain A of the Rb1 protein (UniProt.org). W563L has been identified in sequencing studies (PMID: 10882758, PMID: 35461050), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
W681* nonsense loss of function - predicted RB1 W681* results in a premature truncation of the Rb1 protein at amino acid 681 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), W681* is predicted to lead to a loss of Rb1 protein function.
W75* nonsense loss of function - predicted RB1 W75* results in a premature truncation of the Rb1 protein at amino acid 75 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W75* is predicted to lead to a loss of Rb1 protein function.
W99* nonsense loss of function - predicted RB1 W99* results in a premature truncation of the Rb1 protein at amino acid 99 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W99* is predicted to lead to a loss of Rb1 protein function.
wild-type none no effect Wild-type RB1 indicates that no mutations have been detected within the RB1 gene.
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.
Y606* nonsense loss of function - predicted RB1 Y606* results in a premature truncation of the Rb1 protein at amino acid 606 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Y606* is predicted to lead to a loss of Rb1 protein function.
Y606C missense unknown RB1 Y606C lies within the spacer region of the Rb1 protein (UniProt.org). Y606C has been identified in the scientific literature (PMID: 25057855), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Y659F missense unknown RB1 Y659F lies within domain B of the Rb1 protein (UniProt.org). Y659F has not been characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Y728* nonsense loss of function - predicted RB1 Y728* results in a premature truncation of the Rb1 protein at amino acid 728 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Y728* is predicted to lead to a loss of Rb1 protein function.
Y728C missense unknown RB1 Y728C lies within domain B of the Rb1 protein (UniProt.org). Y728C has been identified in sequencing studies (PMID: 18772396), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).
Y756C missense unknown RB1 Y756C lies within domain B of the Rb1 protein (UniProt.org). Y756C has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, May 2024).