Varaico: Literature-Extracted Genetic Variants

Gene:RB1
Variant:p.S149*
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RB1

NM_000321.3:p.S149*

Associated Papers

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

A Phase II trial of alternating osimertinib and gefitinib therapy in advanced EGFR-T790M positive non-small cell lung cancer: OSCILLATE.

Tan L et al.

Nature Communications, 2024

38418463 (PubMed )
Supplement: 41467_2024_46008_MOESM5_ESM.xlsx › Sheet1

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s002.xlsx › SupTable_S5_Variants_in_FFPE

EGFR and ERBB2 exon 20 insertion/duplication in advanced non-small cell lung cancer: genomic profiling and clinicopathologic features.

Sompallae RR et al.

Frontiers in Oncology, 2023

Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.

Li L et al.

International Ophthalmology, 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

Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.

Zaki MM et al.

Scientific Reports, 2021

Genomic profiling of newly diagnosed glioblastoma patients and its potential for clinical utility - a prospective, translational study.

Nørøxe DS et al.

Molecular Oncology, 2020

32885540 (PubMed )
Supplement: MOL2-14-2727-s001.pdf

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s102.xlsx › shared_calls_primary-mCRPC

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.

Tang J et al.

Theranostics, 2020

32373219 (PubMed )
Supplement: thnov10p5384s2.xlsx › S5-All_HCC_Mutations

Breast cancer metastasis to gynaecological organs: a clinico-pathological and molecular profiling study.

Kutasovic JR et al.

The Journal of Pathology. Clinical Research, 2019

30246500 (PubMed )
Supplement: CJP2-5-25-s002.xlsx › SupTable_11__Sequencing_data

RB1 gene inactivation by chromothripsis in human retinoblastoma.

McEvoy J et al.

Oncotarget, 2014

24509483 (PubMed )
Supplement: oncotarget-05-438-s002.xlsx › UPENN_RB1_Mutation_Analysis__
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