Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.Y178insFs
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TMEM127

NM_017849.4:p.Y178insFs

Associated Papers

Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.

Armaiz-Pena G et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.

Flores SK et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex.

Deng Y et al.

Human Molecular Genetics, 2018

Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.

Deng Y et al.

Endocrine-related Cancer, 2017

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Bausch B et al.

Jama Oncology, 2017

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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."