Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S397*
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RB1

NM_000321.3:p.S397*

Associated Papers

Evaluation of urinary cfDNA workflows for the molecular profiling of malignant disease.

Eberhard A et al.

Iscience, 2025

41142998 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_2

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S12

Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Ansari-Pour N et al.

Blood, 2023

36223594 (PubMed )
Supplement: BLOOD_BLD-2022-017010-mmc2.xlsx › Supplementary_Table_S2

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

Chemotherapy modulates CDK4/6 inhibitors resistance in metastatic breast cancer by Rb1 mutations: a case report and literature review.

Gao L et al.

Annals of Translational Medicine, 2022

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Vandekerkhove G et al.

Nature Communications, 2021

33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4

Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan.

Yousef YA et al.

Familial Cancer, 2018

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

Cygan KJ et al.

Human Genetics, 2017

Exomic sequencing of four rare central nervous system tumor types.

Bettegowda C et al.

Oncotarget, 2013

23592488 (PubMed )
Supplement: oncotarget-04-572-s001.xlsx › supp_table_1a
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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."