Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.P253S
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FGFR2

NM_000141.5:p.P253S

Associated Papers

Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.

Jha P et al.

The Journal of Liquid Biopsy, 2025

40503459 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_S2

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

Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Prieto-Potin I et al.

Peerj, 2020

33083132 (PubMed )
Supplement: peerj-08-10069-s009.xlsx › Table_S4

Molecular Heterogeneity of Ewing Sarcoma as Detected by Ion Torrent Sequencing.

Zhang N et al.

Plos One, 2016

27077911 (PubMed )
Supplement: pone.0153546.s004.xlsx › Sheet1

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.

Lumaka A et al.

European Journal of Medical Genetics, 2014

Patterns and mutational signatures of tandem base substitutions causing human inherited disease.

Chen JM et al.

Human Mutation, 2013

Molecular screening of interleukin-6 gene promoter and influence of -174G/C polymorphism on breast cancer.

Chérel M et al.

Cytokine, 2009

Somatic oncogenic mutations, benign skin lesions and cancer progression: where to look next?

Toll A et al.

Cell Cycle (georgetown, Tex.), 2008

A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23.

Riley BM et al.

American Journal of Medical Genetics. Part A, 2007

Why study human limb malformations?

Wilkie AO

Journal of Anatomy, 2003

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

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.

Anderson J et al.

Human Molecular Genetics, 1998

Molecular genetics of craniosynostotic syndromes.

Müller U et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 1997

Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

Oldridge M et al.

Human Molecular Genetics, 1997

Craniosynostosis: genes and mechanisms.

Wilkie AO

Human Molecular Genetics, 1997

Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.

Fonseca RF et al.

Molecular Medicine Reports, 0

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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."