Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.Q111*
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NF2

NM_000268.4:p.Q111*

Associated Papers

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.

Youngblood MW et al.

Nature Communications, 2023

37805627 (PubMed )
Supplement: 41467_2023_41926_MOESM3_ESM.xlsx › SD1

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

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

Age-dependent copy number variations of TP53 tumour suppressor gene associated with altered phosphorylation status of p53 protein in sporadic schwannomas.

Chen H et al.

Journal of Neuro-oncology, 2019

Genetic landscape of sporadic vestibular schwannoma.

Håvik AL et al.

Journal of Neurosurgery, 2018

Discovery of targetable genetic alterations in advanced non-small cell lung cancer using a next-generation sequencing-based circulating tumor DNA assay.

Hou H et al.

Scientific Reports, 2017

NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.

Szijan I et al.

Neuromolecular Medicine, 2003

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

Defects in neurofibromatosis 2 protein function can arise at multiple levels.

Gutmann DH et al.

Human Molecular Genetics, 1998

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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."