Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.A211D
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NF2

NM_000268.4:p.A211D

Associated Papers

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

Douwes JPJ et al.

Cancers, 2025

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

Han H et al.

Nature Communications, 2024

MerlinS13 phosphorylation regulates meningioma Wnt signaling and magnetic resonance imaging features.

Eaton CD et al.

Nature Communications, 2024

MerlinS13 phosphorylation controls meningioma Wnt signaling and magnetic resonance imaging features.

Eaton C et al.

Research Square, 2023

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

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

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

Meng F et al.

Molecular Cell, 2021

Cell-cell adhesion regulates Merlin/NF2 interaction with the PAF complex.

Roehrig AE et al.

Plos One, 2021

The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Adashek JJ et al.

Genome Medicine, 2020

Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes.

Zhang X et al.

Discovery Medicine, 2014

Merlin/NF2 loss-driven tumorigenesis linked to CRL4(DCAF1)-mediated inhibition of the hippo pathway kinases Lats1 and 2 in the nucleus.

Li W et al.

Cancer Cell, 2014

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

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

Cooper J et al.

Science Signaling, 2011

Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function.

Yang C et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

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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."