Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.S249C
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FGFR3

NM_000142.5:p.S249C

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

FGFR Testing in Metastatic Urothelial Carcinoma-Who, When, and How to Test.

Mansinho A et al.

Cancers, 2026

Four Metachronous Cancers: Mutation Profiling Can Be Used to Distinguish Multiple Primary Cancers from Metastases.

Hisanaga E et al.

Internal Medicine (tokyo, Japan), 2026

Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.

Tangermann C et al.

Nature Genetics, 2026

A case of thymic carcinoma harboring an FGFR3 S249C mutation with durable disease control on lenvatinib.

Bando N et al.

International Cancer Conference Journal, 2026

Reprogramming tumor immunity through APOBEC3s-mediated mutagenesis: from genome instability to immune checkpoint interactions.

Li Q et al.

Frontiers in Immunology, 2026

Diagnostic and Prognostic Implications of FGFR3, TP53 Mutation and Urinary Biomarkers in Urothelial Carcinoma in Pakistani Cohort.

Asif M et al.

Journal of Clinical Medicine, 2025

Targeted hotspot profiling reveals a functionally relevant mutation in bladder cancer.

Hossain MN et al.

Urologic Oncology, 2025

Deep insights and clinical benefits from the comprehensive cohort of fetal skeletal dysplasia in China.

Li G et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.

Yin K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Clinical benefit of additional whole-exome sequencing over panel sequencing in an all-comer real-world molecular tumor board.

Krieghoff-Henning E et al.

Esmo Open, 2025

Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.

Smolenschi C et al.

Npj Precision Oncology, 2025

Clinicopathologic, immunohistochemical and genomic characterization of urothelial carcinoma with myxoid and chordoid features.

Zhao T et al.

Histopathology, 2025

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM1_ESM.pdf

Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer.

Nikkola J et al.

Cell Reports, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Dabogratinib (TYRA-300), an FGFR3 isoform-selective inhibitor: preclinical and initial clinical evidence of anti-tumor activity.

Starrett JH et al.

Molecular Cancer Therapeutics, 2025

Genomic profiling of urological malignancies using tissue-based next generation sequencing.

Alruwaii ZI et al.

Urologic Oncology, 2025

Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss.

Xiang L et al.

Journal of Human Genetics, 2025

Development and Performance Validation of a Comprehensive Liquid Biopsy Genotyping Panel for Pan-cancer Analysis.

Lim S et al.

Annals of Laboratory Medicine, 2025

40888113 (PubMed )
Supplement: alm-46-2-210-supple.pdf

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 2025

Alignment-free unique molecular identifier clustering suppresses sequencing errors for accurate detection of low-frequency DNA variants.

Yu F et al.

Briefings in Bioinformatics, 2025

MRD4U: A path to development for personalized liquid biopsy for children with central nervous system tumors.

Miller AR et al.

Bmc Cancer, 2025

40849662 (PubMed )
Supplement: 12885_2025_14711_MOESM2_ESM.xlsx › TableS6

Integrated histopathologic modeling of detailed tumor subtypes and actionable biomarkers.

Boehm KM et al.

Biorxiv : the Preprint Server for Biology, 2025

Massively parallel immunopeptidome by DNA sequencing provides insights into cancer antigen presentation.

Shi Q et al.

Nature Genetics, 2025

40721532 (PubMed )
Supplement: 41588_2025_2268_MOESM6_ESM.xls › oncogene_mutation

FGFR1/3 Signaling as an Achilles' Heel of Phenotypic Diversity in Urothelial Carcinoma.

Pichler R et al.

European Urology Oncology, 2025

Rational Design and Identification of ISM7594 as a Tissue-Agnostic FGFR2/3 Inhibitor.

Wang Y et al.

Journal of Medicinal Chemistry, 2025

Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.

Hoskins EL et al.

Npj Precision Oncology, 2025

Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.

Nedjadi T et al.

Scientific Reports, 2025

Mutational analysis of consanguineous families and their targeted therapy against dwarfism.

Khan F et al.

Journal of Biomolecular Structure & Dynamics, 2025

Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.

Fukushima T et al.

Clinical Lung Cancer, 2025

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

Molecular patterns and mechanisms of tumorigenesis in HPV-associated and HPV-independent sinonasal squamous cell carcinoma.

Zamuner FT et al.

Nature Communications, 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc3.xlsx › All

Development of a Technique for Diagnosis and Screening of Superficial Bladder Cancer by Cell-Pellet DNA From Urine Sample.

Seok J et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model-Based Prediction.

Ziegler M et al.

Jco Precision Oncology, 2025

Shared neoantigens' atlas for off-the-shelf cancer vaccine development.

Mauriello A et al.

Journal of Translational Medicine, 2025

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Axelsson TA et al.

Bju International, 2025

39654327 (PubMed )
Supplement: BJU-135-792-s001.xlsx › Sheet1

FGFR2/3 Gene Alterations and Clinical Outcomes in Advanced/Metastatic Urothelial Cancer in Japan: MONSTAR-SCREEN Database Study.

Matsubara N et al.

Cancer Science, 2025

Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.

Peng Y et al.

Molecular Medicine (cambridge, Mass.), 2025

40247187 (PubMed )
Supplement: 10020_2025_1199_MOESM5_ESM.xlsx › Sheet1

Integrative analysis of patient-derived tumoroids and ex vivo organoid modelling of ARID1A loss in bladder cancer reveals therapeutic molecular targets.

Scholtes MP et al.

Cancer Letters, 2025

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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."