Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S463_E464Splc
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RB1

NM_000321.3:p.S463_E464Splc

Associated Papers

Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.

Kader T et al.

The Journal of Pathology, 2026

41165701 (PubMed )
Supplement: PATH-268-1-s001.zip › path6461-sup-0001-SuppMatMethFiguresS1-S18TablesS1-S9 › path6461-sup-0003-TableS4.xlsx › Variants_recurrence_cases

Evaluation of urinary cfDNA workflows for the molecular profiling of malignant disease.

Eberhard A et al.

Iscience, 2025

41142998 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_2

Opportunities for Improving Detection of Cancer Predisposition Syndromes in Pediatric Solid Tumor Patients.

Hu B et al.

Journal of Pediatric Hematology/oncology, 2024

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.

Rojanaporn D et al.

Translational Vision Science & Technology, 2022

36173648 (PubMed )
Supplement: tvst-11-9-30_s001.xlsx › Bilat__germline__n__938

Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

Choy KW et al.

Human Mutation, 2002

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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."