Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.Q35*
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RB1

NM_000321.3:p.Q35*

Associated Papers

Timely and accurate RB1 genetic testing guides familial risk stratification in heritable retinoblastoma.

Dersch AM et al.

Ophthalmic Genetics, 2026

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Concurrent inhibition of CDK2 adds to the anti-tumour activity of CDK4/6 inhibition in GIST.

Schaefer IM et al.

British Journal of Cancer, 2022

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

Clinical Impact of Immune Checkpoint Inhibitor (ICI) Response, DNA Damage Repair (DDR) Gene Mutations and Immune-Cell Infiltration in Metastatic Melanoma Subtypes.

Andrieu C et al.

Medical Sciences (basel, Switzerland), 2022

35736346 (PubMed )
Supplement: medsci-10-00026-s001.zip › medsci-1650480-supplementary.pdf

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Yuan T et al.

Frontiers in Oncology, 2021

34168983 (PubMed )
Supplement: DataSheet_2.xlsx › Tab_S3.clean_report

High resolution SNP array profiling identifies variability in retinoblastoma genome stability.

Mol BM et al.

Genes, Chromosomes & Cancer, 2014

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

Nichols KE et al.

Human Mutation, 2005

Molecular karyotype of sporadic unilateral retinoblastoma tumors.

Ganguly A et al.

Retina (philadelphia, Pa.), 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."