Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.P118L
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TMEM127

NM_017849.4:p.P118L

Associated Papers

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S3_

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."