Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.G449E
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RB1

NM_000321.3:p.G449E

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_5_suppst5.xlsx › Sheet1

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

Association of Nrf2 expression and mutation with Weiss and Helsinki scores in adrenocortical carcinoma.

Kamai T et al.

Cancer Science, 2022

Genetic features and application value of next generation sequencing in the diagnosis of synchronous multifocal lung adenocarcinoma.

Chen X et al.

Oncology Letters, 2020

Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas.

Cygan KJ et al.

Human Genetics, 2017

Somatically mutated ABL1 is an actionable and essential NSCLC survival gene.

Testoni E et al.

Embo Molecular Medicine, 2016

26758680 (PubMed )
Supplement: EMMM-8-105-s006.xlsx › H2110_mutations_cBio

Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.

He MY et al.

Molecular Vision, 2014

[Characteristics of RB1 gene mutations in Chinese patients with retinoblastoma].

He MY et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

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

Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

Alonso J et al.

Human Mutation, 2005

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.

Richter S et al.

American Journal of Human Genetics, 2003

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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."