Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.K79E
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NF2

NM_000268.4:p.K79E

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

Phosphorylation of Merlin by Aurora A kinase appears necessary for mitotic progression.

Mandati V et al.

The Journal of Biological Chemistry, 2019

FERM domain phosphoinositide binding targets merlin to the membrane and is essential for its growth-suppressive function.

Mani T et al.

Molecular and Cellular Biology, 2011

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

Evolution and origin of merlin, the product of the Neurofibromatosis type 2 (NF2) tumor-suppressor gene.

Golovnina K et al.

Bmc Evolutionary Biology, 2005

Effect of merlin phosphorylation on neurofibromatosis 2 (NF2) gene function.

Surace EI et al.

Oncogene, 2004

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

Functional analysis of neurofibromatosis 2 (NF2) missense mutations.

Gutmann DH et al.

Human Molecular Genetics, 2001

The 2.7 A crystal structure of the activated FERM domain of moesin: an analysis of structural changes on activation.

Edwards SD et al.

Biochemistry, 2001

Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas.

Gutmann DH et al.

Human Molecular Genetics, 2000

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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."