Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.R225_N226Splc
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NF2

NM_000268.4:p.R225_N226Splc

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_after_120d_TISF

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.

Williams EA et al.

Neuro-oncology, 2023

37436963 (PubMed )
Supplement: noad121_suppl_supplementary_tables.xlsx › Table_S6

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

Sporadic vestibular schwannoma: a molecular testing summary.

Sadler KV et al.

Journal of Medical Genetics, 2021

CPI-17 Overexpression and Its Correlation With the NF2 Mutation Spectrum in Sporadic Vestibular Schwannomas.

Xu J et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.

Evans DG et al.

The Laryngoscope, 2019

CpG island hypermethylation of the neurofibromatosis type 2 (NF2) gene is rare in sporadic vestibular schwannomas.

Kullar PJ et al.

Neuropathology and Applied Neurobiology, 2010

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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."