Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.Q212*
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NF2

NM_000268.4:p.Q212*

Associated Papers

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

Exploiting somatic oncogenic driver alterations in a patient with Li-Fraumeni syndrome- paving the path towards precision medicine: a case report.

Seeling C et al.

Journal of Cancer Research and Clinical Oncology, 2025

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

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

Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing.

Teranishi Y et al.

Scientific Reports, 2022

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.

Teranishi Y et al.

Journal of Medical Genetics, 2021

Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.

Pemov A et al.

Scientific Reports, 2020

Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Mitchell KA et al.

Nature Communications, 2019

31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM8_ESM.xlsx › Sheet1

Neurofibromatosis type 2 gene mutation and progesterone receptor messenger RNA expression in the pathogenesis of sporadic orbitocranial meningioma.

Supartoto A et al.

International Journal of Ophthalmology, 2019

Genetic landscape of sporadic vestibular schwannoma.

Håvik AL et al.

Journal of Neurosurgery, 2018

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.

Paganini I et al.

Journal of Neuro-oncology, 2018

Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus.

Hansson CM et al.

Bmc Genomics, 2007

Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography.

Kim JH et al.

International Journal of Molecular Medicine, 2006

Exon scanning for mutation of the NF2 gene in schwannomas.

Jacoby LB et al.

Human Molecular Genetics, 1994

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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."