Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.R138G
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GCDH

NM_000159.4:p.R138G

Associated Papers

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.

Barroso M et al.

International Journal of Molecular Sciences, 2023

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

Keyser B et al.

Human Molecular Genetics, 2008

Pathogenic mutations in the carboxyl-terminal domain of glutaryl-CoA dehydrogenase: effects on catalytic activity and the stability of the tetramer.

Westover JB et al.

Molecular Genetics and Metabolism, 2003

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

Goodman SI et al.

Human Mutation, 1998

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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."