Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.R376Splc
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RB1

NM_000321.3:p.R376Splc

Associated Papers

Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.

Ratna R et al.

Ophthalmic Genetics, 2025

The mutational landscape of hereditary retinoblastoma and genotype-phenotype associations in Lebanon.

Assaf N et al.

Ophthalmic Genetics, 2025

The Diagnostic Yield of Panel Versus Exome Sequencing to Identify Hereditary Cancer Disorders in Pediatric Cancer.

Lozinsky SM et al.

Journal of Pediatric Hematology/oncology, 2025

When the second comes first- rhabdomyosarcoma preceding heritable retinoblastoma- a case report.

Tripathy D et al.

Bmc Ophthalmology, 2024

Simultaneous Copy Number Alteration and Single-Nucleotide Variation Analysis in Matched Aqueous Humor and Tumor Samples in Children with Retinoblastoma.

Schmidt MJ et al.

International Journal of Molecular Sciences, 2023

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

Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Harms PW et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34593967 (PubMed )
Supplement: NIHMS1739265-supplement-Supplemental_Tables.xlsx › S4-focused

Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.

Hoang CQ et al.

Molecular and Clinical Oncology, 2021

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

Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.

Barbosa RH et al.

Investigative Ophthalmology & Visual Science, 2013

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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."