Varaico: Literature-Extracted Genetic Variants

Gene:TMTC2
Variant:p.V381I
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TMTC2

NM_152588.3:p.V381I

Associated Papers

TPR-containing proteins control protein organization and homeostasis for the endoplasmic reticulum.

Graham JB et al.

Critical Reviews in Biochemistry and Molecular Biology, 2019

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Eisenberger T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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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."