Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.V137_Q139delFs
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TMEM127

NM_017849.4:p.V137_Q139delFs

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

Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.

Cardaci S et al.

Nature Cell Biology, 2015

26302408 (PubMed )
Supplement: NIHMS64521-supplement-SuppTable2.xlsx › Sheet1

Penetrance and clinical features of pheochromocytoma in a six-generation family carrying a germline TMEM127 mutation.

Toledo SP et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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."