Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.I388S
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RB1

NM_000321.3:p.I388S

Associated Papers

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Krug K et al.

Cell, 2020

Identification of highly penetrant Rb-related synthetic lethal interactions in triple negative breast cancer.

Brough R et al.

Oncogene, 2018

29915391 (PubMed )
Supplement: 41388_2018_368_MOESM7_ESM.xlsx › Supplementary_Data_1

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD

Detection of dysregulated protein-association networks by high-throughput proteomics predicts cancer vulnerabilities.

Lapek JD et al.

Nature Biotechnology, 2017

28892078 (PubMed )
Supplement: NIHMS73743-supplement-Supplementary_tables.zip › Supplementary_Table_10_Proteins_with_Nonsense_Mutations_26_Breast_Cancer_Cell_Lines.xlsx › Sheet2

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."