Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.G384R
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FGFR2

NM_000141.5:p.G384R

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

A Pancancer Analysis of the Expression Landscape and Clinical Relevance of Fibroblast Growth Factor Receptor 2 in Human Cancers.

Li J et al.

Frontiers in Oncology, 2021

33968743 (PubMed )
Supplement: Table_2.XLSX › table

Genetic Characterization of Cancer of Unknown Primary Using Liquid Biopsy Approaches.

Laprovitera N et al.

Frontiers in Cell and Developmental Biology, 2021

Immunogenicity and Immune Silence in Human Cancer.

Yarmarkovich M et al.

Frontiers in Immunology, 2020

32256484 (PubMed )
Supplement: Table_4.XLSX › TCGA_HLAs_and_mutations

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

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Genetic rearrangements, hotspot mutations, and microRNA expression in the progression of metastatic adenoid cystic carcinoma of the salivary gland.

Andreasen S et al.

Oncotarget, 2018

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

Barnett CP et al.

Human Mutation, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Evolutionary-guided de novo structure prediction of self-associated transmembrane helical proteins with near-atomic accuracy.

Wang Y et al.

Nature Communications, 2015

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

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

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

Pollock PM et al.

Oncogene, 2007

Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.

Karadimas C et al.

Prenatal Diagnosis, 2006

Advances in the molecular pathogenesis of craniofacial conditions.

Britto JA

Oral and Maxillofacial Surgery Clinics of North America, 2004

Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.

Cohen MM

American Journal of Medical Genetics, 2002

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH et al.

American Journal of Human Genetics, 2002

FGF receptor mutations: dimerization syndromes, cell growth suppression, and animal models.

Kannan K et al.

Iubmb Life, 2000

Clinical spectrum of fibroblast growth factor receptor mutations.

Passos-Bueno MR et al.

Human Mutation, 1999

Craniosynostosis: genes and mechanisms.

Wilkie AO

Human Molecular Genetics, 1997

Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

Pulleyn LJ et al.

European Journal of Human Genetics : Ejhg, 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."