Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.V359F
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FGFR2

NM_000141.5:p.V359F

Associated Papers

Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.

Zingg D et al.

Nature, 2022

35948633 (PubMed )
Supplement: 41586_2022_5066_MOESM16_ESM.xlsx › ED_Fig._2a

Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.

Ibarra-Arce A et al.

Molecular Genetics & Genomic Medicine, 2020

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.

Lin M et al.

Molecular Genetics & Genomic Medicine, 2019

31318164 (PubMed )
Supplement: MGG3-7-e843-s002.doc

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Barnett CP et al.

Human Mutation, 2016

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.

Júnior HM et al.

Medicina Oral, Patologia Oral Y Cirugia Bucal, 2015

Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.

C GP et al.

Applied Biochemistry and Biotechnology, 2013

Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.

Gartside MG et al.

Molecular Cancer Research : Mcr, 2009

FGF signaling: its role in bone development and human skeleton diseases.

Su N et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.

Pollock PM et al.

Oncogene, 2007

Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.

Plotnikov AN et al.

Cell, 2000

Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

Kress W et al.

Cytogenetics and Cell Genetics, 2000

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

The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

Steinberger D et al.

Human Genetics, 1998

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Bellus GA et al.

Nature Genetics, 1996

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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."