Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.D580N
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FGFR3

NM_000142.5:p.D580N

Associated Papers

Identifying predictive markers of head and neck squamous cell carcinoma in an umbrella trial (KCSG HN 15-16 TRIUMPH trial).

Hwang S et al.

Esmo Open, 2025

40967067 (PubMed )
Supplement: mmc9.xlsx › Arm_____

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

Hoskins EL et al.

Npj Precision Oncology, 2025

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Insights of fibroblast growth factor receptor 3 aberrations in pan-cancer and their roles in potential clinical treatment.

Li J et al.

Aging, 2021

34160364 (PubMed )
Supplement: aging-13-203175-s003.xlsx › ___1

Study on pathogenic genes of dwarfism disease by next-generation sequencing.

Yang LL et al.

World Journal of Clinical Cases, 2021

Co-existence of myeloproliferative neoplasias and β-thalassemia with IVS-2-654 mutation-a case report.

Wu C et al.

Translational Cancer Research, 2020

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Jaramillo Oquendo C et al.

Scientific Reports, 2019

31320741 (PubMed )
Supplement: 41598_2019_46906_MOESM1_ESM.xlsx › Table_S3

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Heuertz S et al.

European Journal of Human Genetics : Ejhg, 2006

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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."