Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.E30*
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RB1

NM_000321.3:p.E30*

Associated Papers

Circulating Tumor DNA in Advanced EGFRex20+ NSCLC: Concordance with Tissue Biopsy, Monitoring of Response, and Resistance to High-Dose Osimertinib.

Zwierenga F et al.

Targeted Oncology, 2025

Mutation spectrum of retinoblastoma patients in Vietnam.

Linh DNH et al.

Molecular Genetics & Genomic Medicine, 2023

MEK inhibitor resistance in lung adenocarcinoma is associated with addiction to sustained ERK suppression.

Farnsworth DA et al.

Npj Precision Oncology, 2022

36418460 (PubMed )
Supplement: 41698_2022_328_MOESM3_ESM.xlsx › SupplementaryTable_1

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 › n_1303

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

NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas.

Peterson C et al.

International Journal of Molecular Sciences, 2021

Retinoblastoma mutation predicts poor outcomes in advanced non small cell lung cancer.

Bhateja P et al.

Cancer Medicine, 2019

[Molecular diagnosis of retinoblastoma. First experience in Russia].

Babenko OV et al.

Vestnik Oftalmologii, 0

[Spectrum and frequencies of RB1 gene structural defects in retinoblastoma].

Babenko OV et al.

Molekuliarnaia Biologiia, 0

[RB1 and CDKN2A functional defects resulting in retinoblastoma].

Babenko OV et al.

Molekuliarnaia Biologiia, 0

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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."