Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.K209R
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AGXT

NM_000030.3:p.K209R

Associated Papers

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 2008

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 2006

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.

Lumb MJ et al.

The Journal of Biological Chemistry, 2000

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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."