Varaico: Literature-Extracted Genetic Variants

Gene:FGFR4
Variant:p.V550L
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FGFR4

NM_213647.3:p.V550L

Associated Papers

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

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

Patient-specific sequencing panels enable sensitive circulating tumor DNA analysis in rhabdomyosarcoma independent of genetic profile.

Rahmqvist I et al.

Npj Precision Oncology, 2025

Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution.

Yang B et al.

Virchows Archiv : an International Journal of Pathology, 2025

Association of phosphorylation status of ERK and genetic MAPK alterations in pediatric tumors.

Selt F et al.

Scientific Reports, 2025

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

Recent Applications of In Silico Approaches for Studying Receptor Mutations Associated with Human Pathologies.

Pappalardo M et al.

Molecules (basel, Switzerland), 2024

CAR T-cells targeting FGFR4 and CD276 simultaneously show potent antitumor effect against childhood rhabdomyosarcoma.

Tian M et al.

Nature Communications, 2024

Germline variants in patients diagnosed with pediatric soft tissue sarcoma.

Yndestad S et al.

Acta Oncologica (stockholm, Sweden), 2024

39037077 (PubMed )
Supplement: AO-63-40730-s1.xlsx › 3-Somatic_variants

Genomic profiling of pleomorphic rhabdomyosarcoma reveals a genomic signature distinct from that of embryonal rhabdomyosarcoma.

Saoud C et al.

Genes, Chromosomes & Cancer, 2024

Design, synthesis and biological evaluation of indazole derivatives as selective covalent inhibitors of FGFR4 in wild-type and gatekeeper mutants.

Yang Y et al.

European Journal of Medicinal Chemistry, 2023

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

FGFR families: biological functions and therapeutic interventions in tumors.

Liu Q et al.

Medcomm, 2023

A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.

Marques Da Costa ME et al.

Communications Biology, 2023

37723198 (PubMed )
Supplement: 42003_2023_5320_MOESM4_ESM.xlsx › Suppl._Data_1

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

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

Brown LM et al.

Oncogene, 2023

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

Discovery of 2-Amino-7-sulfonyl-7H-pyrrolo[2,3-d]pyrimidine Derivatives as Potent Reversible FGFR Inhibitors with Gatekeeper Mutation Tolerance: Design, Synthesis, and Biological Evaluation.

Xie W et al.

Journal of Medicinal Chemistry, 2022

Targeting Gatekeeper Mutations for Kinase Drug Discovery.

Zhou Y et al.

Journal of Medicinal Chemistry, 2022

Design, Synthesis, and Biological Evaluation of 5-Formyl-pyrrolo[3,2-b]pyridine-3-carboxamides as New Selective, Potent, and Reversible-Covalent FGFR4 Inhibitors.

Yang F et al.

Journal of Medicinal Chemistry, 2022

Strategies to inhibit FGFR4 V550L-driven rhabdomyosarcoma.

Fiorito E et al.

British Journal of Cancer, 2022

Rare FGFR Oncogenic Alterations in Sequenced Pediatric Solid and Brain Tumors Suggest FGFR Is a Relevant Molecular Target in Childhood Cancer.

Lazo De La Vega L et al.

Jco Precision Oncology, 2022

Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.

Sumazin P et al.

Journal of Hepatology, 2022

35577029 (PubMed )
Supplement: mmc5.xlsx › Mutations

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

Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.

Byron SA et al.

Cancer Research, 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

Intrinsic relative preference profile of pan-kinase inhibitor drug staurosporine towards the clinically occurring gatekeeper mutations in Protein Tyrosine Kinases.

Ren Z et al.

Computational Biology and Chemistry, 2021

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

Repetto M et al.

Expert Review of Clinical Pharmacology, 2021

Molecular mechanisms of the anti-cancer drug, LY2874455, in overcoming the FGFR4 mutation-based resistance.

Dehghanian F et al.

Scientific Reports, 2021

Comprehensive characterization of distinct genetic alterations in metastatic breast cancer across various metastatic sites.

Cha S et al.

Npj Breast Cancer, 2021

34272397 (PubMed )
Supplement: 41523_2021_303_MOESM2_ESM.pdf

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

Nakamura IT et al.

Npj Precision Oncology, 2021

Comprehensive Molecular Profiling of Desmoplastic Small Round Cell Tumor.

Slotkin EK et al.

Molecular Cancer Research : Mcr, 2021

Landscape of drug-resistance mutations in kinase regulatory hotspots.

Kim P et al.

Briefings in Bioinformatics, 2021

Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas.

Juan Ribelles A et al.

Journal of Personalized Medicine, 2021

Fibroblast growth factor receptors in cancer: genetic alterations, diagnostics, therapeutic targets and mechanisms of resistance.

Krook MA et al.

British Journal of Cancer, 2021

Toward structure-based drug design against the epidermal growth factor receptor (EGFR).

Haddad Y et al.

Drug Discovery Today, 2021

FGFR4 Gly388Arg Polymorphism Reveals a Poor Prognosis, Especially in Asian Cancer Patients: A Meta-Analysis.

Kim JH et al.

Frontiers in Oncology, 2021

Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center.

Elliott E et al.

Cancer Reports (hoboken, N.j.), 2020

32881420 (PubMed )
Supplement: CNR2-3-e1287-s001.pdf

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

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

Levine KM et al.

Pharmacology & Therapeutics, 2020

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

George SL et al.

European Journal of Cancer (oxford, England : 1990), 2019

31543384 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Insight into ponatinib resistance mechanisms in rhabdomyosarcoma caused by the mutations in FGFR4 tyrosine kinase using molecular modeling strategies.

Wu C et al.

International Journal of Biological Macromolecules, 2019

Characterization of FGF401 as a reversible covalent inhibitor of fibroblast growth factor receptor 4.

Zhou Z et al.

Chemical Communications (cambridge, England), 2019

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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."