Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.C140Y
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TMEM127

NM_017849.4:p.C140Y

Associated Papers

Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.

Nagy P et al.

International Journal of Molecular Sciences, 2024

Loss of tumor suppressor TMEM127 drives RET-mediated transformation through disrupted membrane dynamics.

Walker TJ et al.

Elife, 2024

Loss of Tumour Suppressor TMEM127 Drives RET-mediated Transformation Through Disrupted Membrane Dynamics.

Walker TJ et al.

Biorxiv : the Preprint Server for Biology, 2024

Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.

Sarkadi B et al.

Cancers, 2021

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

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

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

Patócs A et al.

Pathology Oncology Research : Por, 2016

Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.

Takeichi N et al.

Clinical Endocrinology, 2012

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

Yao L et al.

Jama, 2010

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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."