Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.Q115R
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FGFR3

NM_000142.5:p.Q115R

Associated Papers

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

Palollathil A et al.

Proteomes, 2026

Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.

Gallo LH et al.

Cytokine & Growth Factor Reviews, 2015

Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.

Freitas EC et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2006

Clinical spectrum of fibroblast growth factor receptor mutations.

Passos-Bueno MR et al.

Human Mutation, 1999

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain.

Robertson SC et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

Craniosynostosis: genes and mechanisms.

Wilkie AO

Human Molecular Genetics, 1997

Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

Park WJ et al.

American Journal of Human Genetics, 1995

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

Jabs EW et al.

Nature Genetics, 1994

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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."