Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R698W
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RB1

NM_000321.3:p.R698W

Associated Papers

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › RB1

Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old.

Zhang Y et al.

Disease Markers, 2021

Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer.

Betancor-Fernández I et al.

Handbook of Experimental Pharmacology, 2018

Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

Nik-Zainal S et al.

Nature, 2016

27135926 (PubMed )
Supplement: NIHMS68344-supplement-Supplementary_Tables_1-21.zip › nature17676-s3 › Supplementary_Table_14.Driver.Events.By.Mutation.Type.01052015.v2.xlsx › Subs.indels

NOTCH, ASCL1, p53 and RB alterations define an alternative pathway driving neuroendocrine and small cell lung carcinomas.

Meder L et al.

International Journal of Cancer, 2016

26340530 (PubMed )
Supplement: IJC-138-927-s005.xlsx › Tabelle1

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

Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers.

Berge EO et al.

Molecular Cancer, 2010

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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."