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Gene RB1
Variant I348V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions 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).
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 I348V

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Transcript NM_000321.3
gDNA chr13:g.48367596A>G
cDNA c.1042A>G
Protein p.I348V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.3 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38
NM_000321 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.48367596A>G c.1042A>G p.I348V RefSeq GRCh38/hg38

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  • 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