Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.F119del1
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NF2

NM_000268.4:p.F119del1

Associated Papers

Novel germline and somatic variants in familial and sporadic meningioma genes.

Bencheikh BOA et al.

Npj Genomic Medicine, 2025

40374631 (PubMed )
Supplement: 41525_2025_494_MOESM2_ESM.xlsx › Sheet1

Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.

Evans DG et al.

Journal of Medical Genetics, 2023

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.

Oishi N et al.

Scientific Reports, 2023

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

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_3_TC_var

Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.

Quetel L et al.

Molecular Oncology, 2020

32083805 (PubMed )
Supplement: MOL2-14-1207-s005.xlsx › Table_S4

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.

Evans DG et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Mutational Analysis of Recurrent Meningioma Progressing From Atypical to Rhabdoid Subtype.

Bujko M et al.

World Neurosurgery, 2017

Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas.

Tabernero M et al.

Bmc Medical Genetics, 2013

Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings.

Ahronowitz I et al.

Human Mutation, 2007

NF2 mutations in secretory and other rare variants of meningiomas.

Hartmann C et al.

Brain Pathology (zurich, Switzerland), 2006

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."