Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.G197C
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NF2

NM_000268.4:p.G197C

Associated Papers

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

Han H et al.

Nature Communications, 2024

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

Induced phase separation of mutant NF2 imprisons the cGAS-STING machinery to abrogate antitumor immunity.

Meng F et al.

Molecular Cell, 2021

Merlin/NF2 functions upstream of the nuclear E3 ubiquitin ligase CRL4DCAF1 to suppress oncogenic gene expression.

Cooper J et al.

Science Signaling, 2011

Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.

Li W et al.

Cell, 2010

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

Structural basis for neurofibromatosis type 2. Crystal structure of the merlin FERM domain.

Shimizu T et al.

The Journal of Biological Chemistry, 2002

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."