Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.E565G
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FGFR2

NM_000141.5:p.E565G

Associated Papers

Recurrent resistance mutations to lirafugratinib inform treatment sequencing in FGFR2-driven tumors.

Facchinetti F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

DyVarMap: Integrating Conformational Dynamics and Interpretable Machine Learning for Cancer-Associated Missense Variant Classification in FGFR2.

Lian Y et al.

Bioengineering (basel, Switzerland), 2026

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 › S12_Cell_lines

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

Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis.

Gijsbertsen M et al.

Disease Models & Mechanisms, 2025

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

Wang Y et al.

Journal of Medicinal Chemistry, 2025

40561334 (PubMed )
Supplement: jm5c00928_si_001.pdf

Identification of intragenic variants in pediatric patients with intellectual disability in Peru.

Abarca-Barriga HH et al.

Bmc Medical Genomics, 2025

Understanding and Overcoming Resistance to Selective FGFR Inhibitors across FGFR2-Driven Malignancies.

Facchinetti F et al.

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

38602417 (PubMed )
Supplement: crc-24-0137-s07.pdf

Elucidating the Role of Wildtype and Variant FGFR2 Structural Dynamics in (Dys)Function and Disorder.

Lian Y et al.

International Journal of Molecular Sciences, 2024

The molecular interaction pattern of lenvatinib enables inhibition of wild-type or kinase-mutated FGFR2-driven cholangiocarcinoma.

Spahn S et al.

Nature Communications, 2024

Postpartum related intrahepatic cholangiocarcinoma with FGFR2 fusion and severe hyperbilirubinemia with response to FGFR inhibitor pemigatinib: case report and review.

Washburn L et al.

Journal of Gastrointestinal Oncology, 2023

Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.

Zingg D et al.

Nature, 2022

35948633 (PubMed )
Supplement: 41586_2022_5066_MOESM16_ESM.xlsx › ED_Fig._2a

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Bukowska-Olech E et al.

Frontiers in Molecular Biosciences, 2022

An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.

Chen J et al.

Frontiers in Genetics, 2022

36118902 (PubMed )
Supplement: DataSheet1.XLSX › TableS2

Selective FGFR/FGF pathway inhibitors: inhibition strategies, clinical activities, resistance mutations, and future directions.

Repetto M et al.

Expert Review of Clinical Pharmacology, 2021

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

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.

Bukowska-Olech E et al.

Scientific Reports, 2020

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Elucidation of a four-site allosteric network in fibroblast growth factor receptor tyrosine kinases.

Chen H et al.

Elife, 2017

The Effect of Mutations on Drug Sensitivity and Kinase Activity of Fibroblast Growth Factor Receptors: A Combined Experimental and Theoretical Study.

Bunney TD et al.

Ebiomedicine, 2015

26097890 (PubMed )
Supplement: mmc1.pdf

Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residues.

Molina-Vila MA et al.

Human Mutation, 2014

A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.

Suh YJ et al.

Journal of Cellular Biochemistry, 2014

Structure-functional prediction and analysis of cancer mutation effects in protein kinases.

Dixit A et al.

Computational and Mathematical Methods in Medicine, 2014

Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.

C GP et al.

Applied Biochemistry and Biotechnology, 2013

The N550K/H mutations in FGFR2 confer differential resistance to PD173074, dovitinib, and ponatinib ATP-competitive inhibitors.

Byron SA et al.

Neoplasia (new York, N.y.), 2013

Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.

Gartside MG et al.

Molecular Cancer Research : Mcr, 2009

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

Pollock PM et al.

Oncogene, 2007

A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

Chen H et al.

Molecular Cell, 2007

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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."