Varaico: Literature-Extracted Genetic Variants

Gene:TGM2
Variant:p.M330R
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TGM2

NM_004613.4:p.M330R

Associated Papers

Spotlight on the transglutaminase 2 gene: a focus on genomic and transcriptional aspects.

Bianchi N et al.

The Biochemical Journal, 2018

29764956 (PubMed )
Supplement: bcj-2017-0601c_supp.pdf

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

Thangaraju K et al.

Plos One, 2017

Transglutaminase 2 transamidation activity during first-phase insulin secretion: natural substrates in INS-1E.

Russo L et al.

Acta Diabetologica, 2013

Polymorphism of transglutaminase 2: unusually low frequency of genomic variants with deficient functions.

Király R et al.

Amino Acids, 2013

Glucose homeostasis in mice is transglutaminase 2 independent.

Iismaa SE et al.

Plos One, 2013

Functional characterization of naturally occurring transglutaminase 2 mutants implicated in early-onset type 2 diabetes.

Salter NW et al.

Journal of Molecular Endocrinology, 2012

Transglutaminases and disease: lessons from genetically engineered mouse models and inherited disorders.

Iismaa SE et al.

Physiological Reviews, 2009

Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes.

Vaxillaire M et al.

Endocrine Reviews, 2008

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online.

Porzio O et al.

Human Mutation, 2007

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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."