Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.S109P
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TMEM127

NM_017849.4:p.S109P

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

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

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

Abermil N et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.

Neumann HP et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."