Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.K650M
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FGFR3

NM_000142.5:p.K650M

Associated Papers

Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.

Palollathil A et al.

Proteomes, 2026

The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.

Ma M et al.

Bmc Medical Genomics, 2026

41572294 (PubMed )
Supplement: 12920_2026_2312_MOESM4_ESM.docx

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

Tangermann C et al.

Nature Genetics, 2026

41361008 (PubMed )
Supplement: 41588_2025_2431_MOESM3_ESM.xlsx › S7_Reported_resistance

KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.

Nan H et al.

Clinical Case Reports, 2026

41487979 (PubMed )
Supplement: CCR3-14-e71744-s001.pdf

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_S5

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

40610725 (PubMed )
Supplement: 41698_2025_889_MOESM5_ESM.xlsx › Sheet1

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.

Cui LM et al.

Molecular Genetics & Genomic Medicine, 2025

Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.

Jiang M et al.

Frontiers in Genetics, 2025

40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1

Discovery of TYRA-300: First Oral Selective FGFR3 Inhibitor for the Treatment of Urothelial Cancers and Achondroplasia.

Hudkins RL et al.

Journal of Medicinal Chemistry, 2024

Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.

Lillesand M et al.

Diagnostics (basel, Switzerland), 2024

39410541 (PubMed )
Supplement: diagnostics-14-02137-s001.zip › Table_S2.xlsx › Table_S2

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1

Strain-release alkylation of Asp12 enables mutant selective targeting of K-Ras-G12D.

Zheng Q et al.

Nature Chemical Biology, 2024

38443470 (PubMed )
Supplement: 41589_2024_1565_MOESM1_ESM.pdf

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Soğukpınar M et al.

European Journal of Pediatrics, 2024

A Phase I Study of KIN-3248, an Irreversible Small-molecule Pan-FGFR Inhibitor, in Patients with Advanced FGFR2/3-driven Solid Tumors.

Garmezy B et al.

Cancer Research Communications, 2024

Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.

Liu XD et al.

Heliyon, 2024

38496837 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.

Moura S et al.

Genome Biology and Evolution, 2024

Review of published 467 achondroplasia patients: clinical and mutational spectrum.

Zhang X et al.

Orphanet Journal of Rare Diseases, 2024

A case of long-term survival of SADDAN treated with growth hormone for marked short stature.

Kanno J et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024

Clinical and Genomic Landscape of FGFR3-Altered Urothelial Carcinoma and Treatment Outcomes with Erdafitinib: A Real-World Experience.

Guercio BJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Familial isolated acanthosis nigricans as a result of a recurrent FGFR3 truncating mutation.

Pesqué D et al.

Clinical and Experimental Dermatology, 2023

Role of FGFR3 in bladder cancer: Treatment landscape and future challenges.

Ascione CM et al.

Cancer Treatment Reviews, 2023

Genetic analysis of 55 cases with fetal skeletal dysplasia.

Bai Y et al.

Orphanet Journal of Rare Diseases, 2022

Discovery of 1H-Pyrazole Biaryl Sulfonamides as Novel G2019S-LRRK2 Kinase Inhibitors.

Leśniak RK et al.

Acs Medicinal Chemistry Letters, 2022

35707141 (PubMed )
Supplement: ml2c00116_si_001.pdf

Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

Kim HY et al.

Annals of Pediatric Endocrinology & Metabolism, 2022

Cilia kinases in skeletal development and homeostasis.

Abraham SP et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022

Targeted therapies: Expanding the role of FGFR3 inhibition in urothelial carcinoma.

Zengin ZB et al.

Urologic Oncology, 2022

Serial ctDNA analysis predicts clinical progression in patients with advanced urothelial carcinoma.

Shohdy KS et al.

British Journal of Cancer, 2022

Fibroblast Growth Factor Receptor 1-4 Genetic Aberrations as Clinically Relevant Biomarkers in Squamous Cell Lung Cancer.

Moes-Sosnowska J et al.

Frontiers in Oncology, 2022

Comprehensive genomic profiling of upper tract urothelial carcinoma and urothelial carcinoma of the bladder identifies distinct molecular characterizations with potential implications for targeted therapy & immunotherapy.

Tang Q et al.

Frontiers in Immunology, 2022

36818471 (PubMed )
Supplement: Image_5.pdf

Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.

Wang CY et al.

Bmc Medical Genomics, 2021

Discovery of AS-1763: A Potent, Selective, Noncovalent, and Orally Available Inhibitor of Bruton's Tyrosine Kinase.

Kawahata W et al.

Journal of Medicinal Chemistry, 2021

34529443 (PubMed )
Supplement: jm1c01279_si_001.pdf

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Scocchia A et al.

Orphanet Journal of Rare Diseases, 2021

34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM2_ESM.xlsx › Prenatal_diagnostic_variants

High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias.

Riba FRG et al.

Genetic Testing and Molecular Biomarkers, 2021

Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.

Tahara U et al.

Journal of Human Genetics, 2021

Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.

Nakamura IT et al.

Npj Precision Oncology, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

Crouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain-of-function A391E mutation in FGFR3 gene.

Kariya H et al.

The Journal of Dermatology, 2020

Therapeutics potentiating microglial p21-Nrf2 axis can rescue neurodegeneration caused by neuroinflammation.

Nakano-Kobayashi A et al.

Science Advances, 2020

33188020 (PubMed )
Supplement: abc1428_SM.pdf

Macroscopic somatic clonal expansion in morphologically normal human urothelium.

Li R et al.

Science (new York, N.y.), 2020

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

The role of fibroblast growth factor receptor (FGFR) protein-tyrosine kinase inhibitors in the treatment of cancers including those of the urinary bladder.

Roskoski R

Pharmacological Research, 2020

Analysis of FGFR3 and HRAS genes in patients with bladder cancer.

Homami A et al.

Medical Journal of the Islamic Republic of Iran, 2020

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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."