Varaico: Literature-Extracted Genetic Variants

Gene:TXN
Variant:p.M1V
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TXN

NM_003329.4:p.M1V

Associated Papers

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Laugwitz L et al.

American Journal of Human Genetics, 2025

39753114 (PubMed )
Supplement: mmc2.pdf

Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.

Schoenmakers E et al.

Antioxidants & Redox Signaling, 2020

One single in-frame AUG codon is responsible for a diversity of subcellular localizations of glutaredoxin 2 in Saccharomyces cerevisiae.

Porras P et al.

The Journal of Biological Chemistry, 2006

Prediction of deleterious functional effects of amino acid mutations using a library of structure-based function descriptors.

Herrgard S et al.

Proteins, 2003

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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."