Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.P18L
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TMEM127

NM_017849.4:p.P18L

Associated Papers

Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry.

Estrada-Zuniga C et al.

Research Square, 2026

Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.

Li J et al.

Frontiers in Immunology, 2025

40519929 (PubMed )
Supplement: Table2.xlsx › info_analysis

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH et al.

Journal of Medical Genetics, 2022

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.

Yuan Y et al.

Frontiers in Genetics, 2022

36159980 (PubMed )
Supplement: Table1.XLSX › SNP

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients.

Zhang YJ et al.

Gastroenterology Report, 2021

34567566 (PubMed )
Supplement: goab020_supplementary_data.zip › 2020-457_Supplementary_Table_5.xlsx › Sheet1

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

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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."