Varaico: Literature-Extracted Genetic Variants

Gene:TGM6
Variant:p.E574_D575del1
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TGM6

NM_198994.3:p.E574_D575del1

Associated Papers

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.

Cheng HL et al.

Gene, 2021

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.

Manini A et al.

Bmc Neurology, 2020

Mutations in TGM6 induce the unfolded protein response in SCA35.

Tripathy D et al.

Human Molecular Genetics, 2017

Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.

Thangaraju K et al.

Plos One, 2017

28248968 (PubMed )
Supplement: pone.0172189.s003.pdf

Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization.

Guo YC et al.

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."