Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.L360P
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NF2

NM_000268.4:p.L360P

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

Proximity biotinylation identifies a set of conformation-specific interactions between Merlin and cell junction proteins.

Hennigan RF et al.

Science Signaling, 2019

Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas.

DE Carvalho RM et al.

Anticancer Research, 2018

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

The merlin interacting proteins reveal multiple targets for NF2 therapy.

Scoles DR

Biochimica Et Biophysica Acta, 2008

Self-masking in an intact ERM-merlin protein: an active role for the central alpha-helical domain.

Li Q et al.

Journal of Molecular Biology, 2007

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

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

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

Scoles DR et al.

Human Molecular Genetics, 2000

Neurofibromatosis 2 tumour suppressor schwannomin interacts with betaII-spectrin.

Scoles DR et al.

Nature 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

Exon scanning for mutation of the NF2 gene in schwannomas.

Jacoby LB et al.

Human Molecular Genetics, 1994

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.

Bianchi AB et al.

Nature Genetics, 1994

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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."