Varaico: Literature-Extracted Genetic Variants

Gene:TMEM240
Variant:p.E149K
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TMEM240

NM_001114748.2:p.E149K

Associated Papers

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

Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Schütte M et al.

Nature Communications, 2017

28186126 (PubMed )
Supplement: ncomms14262-s8.xlsx › all_discordant_SNVs_Indels

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."