Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.I2179S
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SETX

NM_015046.7:p.I2179S

Associated Papers

Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.

Ngo KJ et al.

Molecular Medicine (cambridge, Mass.), 2025

Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2.

Appel CD et al.

Molecular Cell, 2023

Sen1 has unique structural features grafted on the architecture of the Upf1-like helicase family.

Leonaitė B et al.

The Embo Journal, 2017

28408439 (PubMed )
Supplement: EMBJ-36-1590-s001.pdf

Saccharomyces cerevisiae Sen1 as a model for the study of mutations in human Senataxin that elicit cerebellar ataxia.

Chen X et al.

Genetics, 2014

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Fogel BL et al.

Human Molecular Genetics, 2014

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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."