Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.Q470*
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NF2

NM_000268.4:p.Q470*

Associated Papers

Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.

Douwes JPJ et al.

Cancers, 2025

39941762 (PubMed )
Supplement: cancers-17-00393-s001.zip › Table_S1-Patient_Characteristics___Genetics.xlsx › Genetics_-_Data

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

Genomic and transcriptomic profiles associated with response to eribulin and nivolumab combination in HER-2-negative metastatic breast cancer.

Park C et al.

Cancer Immunology, Immunotherapy : Cii, 2024

39105849 (PubMed )
Supplement: 262_2024_3782_MOESM1_ESM.pdf

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

NF2 Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas.

Sakai Y et al.

Cancers, 2022

35804955 (PubMed )
Supplement: cancers-14-03183-s001.zip › supplementary_table_S4.xlsx › supplementary_table

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

Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2.

Dinh CT et al.

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

Expression of NF2 Modulates the Progression of BRAFV600E Mutated Thyroid Cancer Cells.

You MH et al.

Endocrinology and Metabolism (seoul, Korea), 2019

Genomic Alterations of Anaplastic Thyroid Carcinoma Detected by Targeted Massive Parallel Sequencing in a BRAF(V600E) Mutation-Prevalent Area.

Jeon MJ et al.

Thyroid : Official Journal of the American Thyroid Association, 2016

26980298 (PubMed )
Supplement: sj-pdf-5-thy-10.1089_thy.2015.0506.pdf

Natural history of neurofibromatosis type 2 with onset before the age of 1 year.

Ruggieri M et al.

Neurogenetics, 2013

Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma.

Evans DG et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 1999

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

Evans DG et al.

Journal of Medical Genetics, 1998

Epigenetic dysregulation in meningiomas.

Wedemeyer MA et al.

Neuro-oncology Advances, 0

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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."