Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.W184*
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NF2

NM_000268.4:p.W184*

Associated Papers

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Transcriptional landscape of pleural mesothelioma patients in relation to NF2 gene mutational status.

Orozco-Castaño C et al.

Journal of the Egyptian National Cancer Institute, 2025

Functional annotation of the Hippo pathway somatic mutations in human cancers.

Han H et al.

Nature Communications, 2024

39572544 (PubMed )
Supplement: 41467_2024_54480_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data_2.xlsx › All_Hippo_somatic_mutations

Sequencing of cerebrospinal fluid cell-free DNA facilitated early differential diagnosis of intramedullary spinal cord tumors.

Chai R et al.

Npj Precision Oncology, 2024

38388726 (PubMed )
Supplement: 41698_2024_541_MOESM1_ESM.pdf

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

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

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

Development of an optimal protocol for molecular profiling of tumor cells in pleural effusions at single-cell level.

Nakamura IT et al.

Cancer Science, 2021

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

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

Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient.

Miller CA et al.

Cold Spring Harbor Molecular Case Studies, 2018

Genetic landscape of sporadic vestibular schwannoma.

Håvik AL et al.

Journal of Neurosurgery, 2018

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.

Boyd C et al.

Clinical Genetics, 2008

The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells.

Bashour AM et al.

Molecular and Cellular Biology, 2002

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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."