Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.L535P
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NF2

NM_000268.4:p.L535P

Associated Papers

Merlin tumor suppressor function is regulated by PIP2-mediated dimerization.

Hennigan RF et al.

Plos One, 2023

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › NF2

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.

Forde C et al.

Neuro-oncology, 2021

NEDD4L-mediated Merlin ubiquitination facilitates Hippo pathway activation.

Wei Y et al.

Embo Reports, 2020

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

Adashek JJ et al.

Genome Medicine, 2020

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

Mandati V et al.

The Journal of Biological Chemistry, 2019

Angiomotin binding-induced activation of Merlin/NF2 in the Hippo pathway.

Li Y et al.

Cell Research, 2015

In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype.

Heineman TE et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015

Neuronal merlin influences ERBB2 receptor expression on Schwann cells through neuregulin 1 type III signalling.

Schulz A et al.

Brain : a Journal of Neurology, 2014

Distinct overlapping sequences at the carboxy-terminus of merlin regulate its tumour suppressor and morphogenic activity.

Laulajainen M et al.

Journal of Cellular and Molecular Medicine, 2012

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

The merlin interacting proteins reveal multiple targets for NF2 therapy.

Scoles DR

Biochimica Et Biophysica Acta, 2008

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

Effects of Nf2 missense mutations on schwannomin interactions.

Scoles DR et al.

Biochemical and Biophysical Research Communications, 2002

Binding of the merlin-I product of the neurofibromatosis type 2 tumour suppressor gene to a novel site in beta-fodrin is regulated by association between merlin domains.

Neill GW et al.

The Biochemical Journal, 2001

Functional analysis of neurofibromatosis 2 (NF2) missense mutations.

Gutmann DH et al.

Human Molecular Genetics, 2001

The neurofibromatosis 2 tumor suppressor protein interacts with hepatocyte growth factor-regulated tyrosine kinase substrate.

Scoles DR et al.

Human Molecular Genetics, 2000

Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain.

Pearson MA et al.

Cell, 2000

Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations.

Stokowski RP et al.

American Journal of Human Genetics, 2000

Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma.

Evans DG et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 1999

Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading.

Gutmann DH et al.

Human Molecular Genetics, 1999

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

Evans DG et al.

Journal of Medical Genetics, 1998

Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin.

Scoles DR et al.

Nature Genetics, 1998

Defects in neurofibromatosis 2 protein function can arise at multiple levels.

Gutmann DH et al.

Human Molecular Genetics, 1998

A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.

Kluwe L et al.

Human Genetics, 1996

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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."