Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.M514V
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NF2

NM_000268.4:p.M514V

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 › Hippo_neutral_mutations

Re-evaluation of missense variant classifications in NF2.

Sadler KV et al.

Human Mutation, 2022

NEDD4L-mediated Merlin ubiquitination facilitates Hippo pathway activation.

Wei Y et al.

Embo Reports, 2020

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

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

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E et al.

Plos One, 2015

26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1

High accuracy mutation detection in leukemia on a selected panel of cancer genes.

Kalender Atak Z et al.

Plos One, 2012

22675565 (PubMed )
Supplement: pone.0038463.s007.xlsx › TableS3

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."