Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.P253R
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FGFR2

NM_000141.5:p.P253R

Associated Papers

Human-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.

Kaczmarek P et al.

Journal of Anatomy, 2026

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Karaman V et al.

Prenatal Diagnosis, 2026

Genetic Syndromes Associated With Congenital Upper Limb Differences.

Elsherbini A et al.

The Journal of Hand Surgery, 2026

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

Palollathil A et al.

Proteomes, 2026

Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.

Park RK et al.

International Journal of Pediatric Otorhinolaryngology, 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

PI3Kα Inhibitor and Degrader Inavolisib Can Co-opt FGFR2 to Enhance Responses in Patients with PIK3CA-Mutated Solid Tumors and in Preclinical Models.

Juric D et al.

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

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Saad R et al.

American Journal of Medical Genetics. Part A, 2026

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

Genetic and Molecular Determinants of Familial Transmission of Skeletal Malocclusions.

Dehesa-Santos A et al.

Orthodontics & Craniofacial Research, 2025

Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.

Pan D et al.

American Journal of Medical Genetics. Part A, 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

Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness.

El-Bassyouni HT et al.

Molecular Neurobiology, 2025

FGFR2 residence in primary cilia is necessary for epithelial cell signaling.

Nita A et al.

The Journal of Cell Biology, 2025

The primary cilium as a gatekeeper of FGFR2 function.

Kaushik R et al.

The Journal of Cell Biology, 2025

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

Hoskins EL et al.

Npj Precision Oncology, 2025

Dosage-dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses.

Richbourg HA et al.

Anatomical Record (hoboken, N.j. : 2007), 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: mmc6.xlsx › Sheet_1

Efficacy of 2 different fibroblast growth factor receptor-inhibitors in a patient with extrahepatic cholangiocarcinoma harboring an FGFR2 mutation: a case report.

Galli-Vareia I et al.

The Oncologist, 2025

Targeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome.

Tiberio F et al.

Molecular Therapy. Nucleic Acids, 2025

RNA-Based Next-Generation Sequencing Approach to Non-Small Cell Lung Cancer: A Single-Center Experience in Turkey.

Gorukmez O et al.

Human Heredity, 2025

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.

Ge Y et al.

Frontiers in Medicine, 2025

From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.

Li H et al.

Frontiers in Pediatrics, 2025

New CRISPR/Cas9-based Fgfr2C361Y/+ mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities.

Yue YY et al.

Journal of Molecular Medicine (berlin, Germany), 2024

Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.

Luo C et al.

Molecular Genetics & Genomic Medicine, 2024

FGFR2-fusions define a clinically actionable molecular subset of pancreatic cancer.

Stein L et al.

Npj Precision Oncology, 2024

39289482 (PubMed )
Supplement: 41698_2024_683_MOESM1_ESM.pdf

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Basyuni S et al.

Nature Communications, 2024

39231944 (PubMed )
Supplement: 41467_2024_51577_MOESM13_ESM.xlsx › PARTNER_PBCP_cohort

Prenatal diagnosis and management of Apert syndrome in a low-middle income country: Case report.

Souayeh N et al.

International Journal of Surgery Case Reports, 2024

Therapeutic advances of targeting receptor tyrosine kinases in cancer.

Tomuleasa C et al.

Signal Transduction and Targeted Therapy, 2024

Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome.

Varlas VN et al.

Diagnostics (basel, Switzerland), 2024

Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.

Chen SH et al.

Cancer Medicine, 2024

38895905 (PubMed )
Supplement: CAM4-13-e7384-s003.xlsx › Sheet1

Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.

Faria-Teixeira MC et al.

Pediatric 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

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

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.

Fieuws C et al.

Npj Precision Oncology, 2024

38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf

The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.

Maksiutenko EM et al.

International Journal of Molecular Sciences, 2023

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.

Wagner CS et al.

The Journal of Craniofacial Surgery, 2023

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.

Kumari K et al.

Cureus, 2023

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Integrating transcriptomics and genomics to identify fibroblast growth factor/receptor candidate genes for non-syndromic orofacial cleft in Chinese.

Ge B et al.

Archives of Oral Biology, 2023

Exosome-mediated small interfering RNA delivery inhibits aberrant osteoblast differentiation in Apert syndrome model mice.

Myo AC et al.

Archives of Oral Biology, 2023

ASXL3 gene mutations inhibit cell proliferation and promote cell apoptosis in mouse cardiomyocytes by upregulating lncRNA NONMMUT063967.2.

Liu Z et al.

Biochemistry and Biophysics Reports, 2023

Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?

Timberlake AT

Plastic and Reconstructive Surgery, 2023

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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."