Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.N546D
Back to variants list

FGFR1

NM_023110.3:p.N546D

Associated Papers

Clinical and Genetic Landscape of Glioblastoma, IDH-Wildtype With FGFR Gene Family Alterations.

Kegoya Y et al.

Cancer Science, 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 › S10_Screen_data_table

Concurrence of FGFR1 mutations modulates oncogenesis in glioneuronal tumors.

Boni J et al.

The Embo Journal, 2025

41174249 (PubMed )
Supplement: 44318_2025_600_MOESM1_ESM.pdf

A diverse landscape of FGFR alterations and co-mutations suggests potential therapeutic strategies in pediatric low-grade gliomas.

Apfelbaum AA et al.

Nature Communications, 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

Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.

Jokinen V et al.

Bjc Reports, 2025

A Hemorrhagic Brain Mass in a Child With Encephalocraniocutaneous Lipomatosis.

Hall E et al.

Journal of Pediatric Hematology/oncology, 2024

H3K27-altered diffuse midline gliomas with MAPK pathway alterations: Prognostic and therapeutic implications.

Gestrich C et al.

Journal of Neuropathology and Experimental Neurology, 2023

Biological and clinical implications of FGFR aberrations in paediatric and young adult cancers.

Brown LM et al.

Oncogene, 2023

Patient with Diffuse Midline Glioma, H3 K27-altered, Carrying an FGFR1 Mutation Who Experienced Thalamic Hemorrhage: A Case Report and Literature Review.

Matsunaga K et al.

Nmc Case Report Journal, 2023

The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.

Trotman J et al.

British Journal of Cancer, 2022

35449451 (PubMed )
Supplement: 41416_2022_1788_MOESM4_ESM.pdf

FGFR4: A promising therapeutic target for breast cancer and other solid tumors.

Levine KM et al.

Pharmacology & Therapeutics, 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

Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.

Lucas CG et al.

Acta Neuropathologica Communications, 2020

Actionable FGFR1 and BRAF mutations in adult circumscribed gliomas.

Trisolini E et al.

Journal of Neuro-oncology, 2019

Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations.

Reinhardt A et al.

Acta Neuropathologica, 2018

FGFR1 actionable mutations, molecular specificities, and outcome of adult midline gliomas.

Picca A et al.

Neurology, 2018

Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Padovan-Merhar OM et al.

Plos Genetics, 2016

27997549 (PubMed )
Supplement: pgen.1006501.s002.xlsx › Sheet1

Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.

Schulte JD et al.

Neuro-oncology Advances, 0

33354667 (PubMed )
Supplement: vdaa142_suppl_supplementary_tables.xlsx › Table_S1_NGS_SNV_indel_data
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."