Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.A315T
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FGFR2

NM_000141.5:p.A315T

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

The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.

Ma M et al.

Bmc Medical Genomics, 2026

41572294 (PubMed )
Supplement: 12920_2026_2312_MOESM4_ESM.docx

Progress in clinical diagnosis and treatment of colorectal cancer with rare genetic variants.

Chen S et al.

Cancer Biology & Medicine, 2024

Efficacy of immunotherapy in ARID1A-mutant solid tumors: a single-center retrospective study.

Zhou H et al.

Discover Oncology, 2024

38847966 (PubMed )
Supplement: 12672_2024_1074_MOESM2_ESM.xlsx › Sheet1

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

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O et al.

International Journal of Molecular Sciences, 2022

35887114 (PubMed )
Supplement: ijms-23-07764-s001.zip › Supplementary_Table_S1.xlsx › General

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

Genetic advances in craniosynostosis.

Lattanzi W et al.

American Journal of Medical Genetics. Part A, 2017

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Ye X et al.

Plastic and Reconstructive Surgery, 2016

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

Gallo LH et al.

Cytokine & Growth Factor Reviews, 2015

Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery.

Hudson AM et al.

Cancer Research, 2014

Virtual screening on an α-helix to β-strand switchable region of the FGFR2 extracellular domain revealed positive and negative modulators.

Diaz C et al.

Proteins, 2014

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y et al.

Current Genetic Medicine Reports, 2014

Fibroblast growth factor receptors, developmental corruption and malignant disease.

Kelleher FC et al.

Carcinogenesis, 2013

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.

Lattanzi W et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2012

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

Sharma VP et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2012

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

Gartside MG et al.

Molecular Cancer Research : Mcr, 2009

Cancer genomics and genetics of FGFR2 (Review).

Katoh M

International Journal of Oncology, 2008

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

Pollock PM et al.

Oncogene, 2007

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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."