Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.Q115*
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NF2

NM_000268.4:p.Q115*

Associated Papers

Integrated proteomic and targeted Next Generation Sequencing reveal relevant heterogeneity in lower-grade meningioma and ANXA3 as a new target in NF2 mutated meningiomas.

Shah M et al.

Ebiomedicine, 2025

40562609 (PubMed )
Supplement: mmc10.xlsx › ANXA3_expression

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_S2

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF2

Prognostic impact of genetic alterations and methylation classes in meningioma.

Berghoff AS et al.

Brain Pathology (zurich, Switzerland), 2022

35213082 (PubMed )
Supplement: BPA-32-e12970-s001.xlsx › Sheet1

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Mansouri S et al.

Acta Neuropathologica, 2021

33025139 (PubMed )
Supplement: 401_2020_2230_MOESM1_ESM.pdf

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

Wallace AJ et al.

Genetic Testing, 2004

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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."