Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.W41C
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NF2

NM_000268.4:p.W41C

Associated Papers

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_3.xlsx › All_Hippo_missense_mutations

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

35332608 (PubMed )
Supplement: HUMU-43-643-s001.xlsx › Sheet1

Prediction and evaluation of deleterious and disease causing non-synonymous SNPs (nsSNPs) in human NF2 gene responsible for neurofibromatosis type 2 (NF2).

Havranek B et al.

Journal of Biomolecular Structure & Dynamics, 2021

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

The structure of the FERM domain of merlin, the neurofibromatosis type 2 gene product.

Kang BS et al.

Acta Crystallographica. Section D, Biological Crystallography, 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."