Varaico: Literature-Extracted Genetic Variants

Gene:TGM6
Variant:p.R448W
Back to variants list

TGM6

NM_198994.3:p.R448W

Associated Papers

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

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

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Fogel BL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."