Varaico: Literature-Extracted Genetic Variants

Gene:SETX
Variant:p.R2444C
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SETX

NM_015046.7:p.R2444C

Associated Papers

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

Appel CD et al.

Molecular Cell, 2023

Sézary syndrome originates from heavily mutated hematopoietic progenitors.

Harro CM et al.

Blood Advances, 2023

37531660 (PubMed )
Supplement: BLOODA_ADV-2022-008562-mmc1.pdf

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review.

Chen S et al.

Frontiers in Molecular Neuroscience, 2022

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

The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.

Arning L et al.

Neurogenetics, 2013

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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."