Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.M391R
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FGFR2

NM_000141.5:p.M391R

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_S5

FGFR2 residence in primary cilia is necessary for epithelial cell signaling.

Nita A et al.

The Journal of Cell Biology, 2025

The primary cilium as a gatekeeper of FGFR2 function.

Kaushik R et al.

The Journal of Cell Biology, 2025

Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.

Hoskins EL et al.

Npj Precision Oncology, 2025

40610725 (PubMed )
Supplement: 41698_2025_889_MOESM5_ESM.xlsx › Sheet1

Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.

Jokinen V et al.

Bjc Reports, 2025

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1

A Phase I Study of KIN-3248, an Irreversible Small-molecule Pan-FGFR Inhibitor, in Patients with Advanced FGFR2/3-driven Solid Tumors.

Garmezy B et al.

Cancer Research Communications, 2024

38602417 (PubMed )
Supplement: crc-24-0137-s07.pdf

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

Further genetic testing in fetuses with increased nuchal translucency and a normal array: A targeted panel or exome?

Yang YD et al.

Taiwanese Journal of Obstetrics & Gynecology, 2022

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

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

Nuclear Fibroblast Growth Factor Receptor Signaling in Skeletal Development and Disease.

Tuzon CT et al.

Current Osteoporosis Reports, 2019

Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.

Salva JE et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2019

Genetic Causes of Craniosynostosis: An Update.

Goos JAC et al.

Molecular Syndromology, 2019

Clinical genetics of craniosynostosis.

Wilkie AOM et al.

Current Opinion in Pediatrics, 2017

FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.

Neben CL et al.

Human Molecular Genetics, 2017

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

Azoury SC et al.

International Journal of Biological Sciences, 2017

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Krakow D et al.

American Journal of Medical Genetics. Part A, 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

A new case of bent bone dysplasia--FGFR2 type and review of the literature.

Stichelbout M et al.

American Journal of Medical Genetics. Part A, 2016

Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation.

Handa A et al.

Pediatric Radiology, 2016

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

Gallo LH et al.

Cytokine & Growth Factor Reviews, 2015

Fibroblast growth factor signaling in skeletal development and disease.

Ornitz DM et al.

Genes & Development, 2015

Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.

Neben CL et al.

Human Molecular Genetics, 2014

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

Merrill AE et al.

American Journal of Human Genetics, 2012

FGFR2 point mutations in 466 endometrioid endometrial tumors: relationship with MSI, KRAS, PIK3CA, CTNNB1 mutations and clinicopathological features.

Byron SA et al.

Plos One, 2012

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

Gartside MG et al.

Molecular Cancer Research : Mcr, 2009

Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation.

Byron SA et al.

Cancer Research, 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."