Varaico: Literature-Extracted Genetic Variants

Gene:TMEM240
Variant:p.Y163*
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TMEM240

NM_001114748.2:p.Y163*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Spinocerebellar ataxias (SCAs) caused by common mutations.

Müller U

Neurogenetics, 2021

The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Traschütz A et al.

Parkinsonism & Related Disorders, 2019

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Delplanque J et al.

Brain : a Journal of Neurology, 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."