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Gene RB1
Variant S751Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions 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).
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 S751Y

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Transcript NM_000321.3
gDNA chr13:g.48465038C>A
cDNA c.2252C>A
Protein p.S751Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.3 chr13:g.48465038C>A c.2252C>A p.S751Y RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48465038C>A c.2252C>A p.S751Y RefSeq GRCh38/hg38
XM_011535171.2 chr13:g.48473383_48473384delCAinsAT c.2252_2253delCAinsAT p.S751Y RefSeq GRCh38/hg38
NM_000321 chr13:g.48465038C>A c.2252C>A p.S751Y RefSeq GRCh38/hg38
XM_011535171 chr13:g.48473383_48473384delCAinsAT c.2252_2253delCAinsAT p.S751Y RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48465038C>A c.2252C>A p.S751Y RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RB1 mutant estrogen-receptor positive breast cancer predicted - resistant Palbociclib Phase III Actionable In a Phase III trial (PALOMA-3), acquired RB1 mutations were identified in patents with ER-positive, ERBB2 (HER2)-negative breast cancer at the end of treatment in the Faslodex (fulvestrant) plus Ibrance (palbociclib) but not the Faslodex (fulvestrant) plus placebo arm, suggesting a role in conferring resistance to Ibrance (palbociclib) (PMID: 30206110; NCT01942135). 30206110
RB1 mutant osteosarcoma sensitive VCN-01 Preclinical - Cell line xenograft Actionable In a preclinical study, VCN-01 decreased viability of a human RB1-mutant primary osteosarcoma cell line in culture, and inhibited tumor growth and decreased lung metastases in xenograft models (PMID: 26603261). 26603261