Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.P263L
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FGFR2

NM_000141.5:p.P263L

Associated Papers

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S8.HighCoverageVariantsExpPanel

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

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

Identification of novel mutations in endometrial cancer patients by whole-exome sequencing.

Chang YS et al.

International Journal of Oncology, 2017

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

Barnett CP et al.

Human Mutation, 2016

Understanding craniosynostosis as a growth disorder.

Flaherty K et al.

Wiley Interdisciplinary Reviews. Developmental Biology, 2016

Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.

Takagi M et al.

Human Genome Variation, 2016

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

FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies.

Katoh M

The Journal of Investigative Dermatology, 2009

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

Gartside MG et al.

Molecular Cancer Research : Mcr, 2009

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

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

Pollock PM et al.

Oncogene, 2007

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.

Wilkie AO

Cytokine & Growth Factor Reviews, 2005

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

Kress W et al.

Cytogenetics and Cell Genetics, 2000

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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."