Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.N258_R259delFs
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RB1

NM_000321.3:p.N258_R259delFs

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor

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

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

Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.

Manukonda R et al.

Ophthalmic Genetics, 2022

DMG26: A Targeted Sequencing Panel for Mutation Profiling to Address Gaps in the Prognostication of Multiple Myeloma.

Cutler SD et al.

The Journal of Molecular Diagnostics : Jmd, 2021

The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Xie Y et al.

Risk Management and Healthcare Policy, 2021

Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Kooi IE et al.

Scientific Reports, 2016

27126562 (PubMed )
Supplement: srep25264-s3.xls › somaticVariants

Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Kalsoom S et al.

Molecular Vision, 2015

Influence of MDM2 and MDM4 on development and survival in hereditary retinoblastoma.

de Oliveira Reis AH et al.

Pediatric Blood & Cancer, 2012

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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."