Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.G271V
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FGFR2

NM_000141.5:p.G271V

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.

Ogawa JT et al.

American Journal of Medical Genetics. Part A, 2025

Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report.

Niu Y et al.

Journal of Medical Case Reports, 2023

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

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Lin J et al.

Frontiers in Immunology, 2022

36505399 (PubMed )
Supplement: Table_2.xlsx › vars

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.

Azoury SC et al.

International Journal of Biological Sciences, 2017

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

Barnett CP et al.

Human Mutation, 2016

A novel mutation in FGFR2.

Goos JA et al.

American Journal of Medical Genetics. Part A, 2015

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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."