Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.D42A
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HMGCL

NM_000191.3:p.D42A

Associated Papers

Crystal structure of reaction intermediates in pyruvate class II aldolase: substrate cleavage, enolate stabilization, and substrate specificity.

Coincon M et al.

The Journal of Biological Chemistry, 2012

Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization.

Tuinstra RL et al.

Biochemistry, 2004

Investigation of conserved acidic residues in 3-hydroxy-3-methylglutaryl-CoA lyase: implications for human disease and for functional roles in a family of related proteins.

Tuinstra RL et al.

The Journal of Biological Chemistry, 2003

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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."