Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.V137Splc
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TMEM127

NM_017849.4:p.V137Splc

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation.

Guo Q et al.

Cell Reports, 2023

37659079 (PubMed )
Supplement: NIHMS1940248-supplement-SupplementaryData_Guo_et_al.pdf

[Bilateral pheochromocytoma associates with TMEM127 gene mutation. Report of one case].

Delgado JF et al.

Revista Medica De Chile, 2022

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

Pheochromocytoma Due to TMEM127 Mutation - The Importance of Genetic Testing for Clinical Decision.

Paredes SCS et al.

European Endocrinology, 2020

Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.

Eijkelenkamp K et al.

Clinical Genetics, 2018

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

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

Qin Y et al.

Nature Genetics, 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."