Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.S147del1
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TMEM127

NM_017849.4:p.S147del1

Associated Papers

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

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

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

Deng Y et al.

Endocrine-related Cancer, 2017

Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel-Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127).

Gupta S et al.

Endocrine Pathology, 2017

The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function.

Qin Y et al.

Human Molecular Genetics, 2014

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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."