Varaico: Literature-Extracted Genetic Variants

Gene:TGM6
Variant:p.R111C
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TGM6

NM_198994.3:p.R111C

Associated Papers

Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.

Guan L et al.

European Journal of Medical Research, 2026

41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

Bhérer C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic

Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients.

Sharawat IK et al.

Journal of Neurosciences in Rural Practice, 2021

Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology.

Marsili L et al.

International Journal of Molecular Sciences, 2021

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

Cheng HL et al.

Gene, 2021

Letter to the editor regarding "TGM6 variants in Parkinson's disease: clinical findings and functional evidence".

Hall A et al.

Journal of Integrative Neuroscience, 2020

In reply to the letter to the editor regarding "TGM6 variants in Parkinson's disease: clinical findings and functional evidence".

Chen K et al.

Journal of Integrative Neuroscience, 2020

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

Manini A et al.

Bmc Neurology, 2020

TGM6 variants in Parkinson's disease: clinical findings and functional evidence.

Chen K et al.

Journal of Integrative Neuroscience, 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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