Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.C266S
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HMGCL

NM_000191.3:p.C266S

Associated Papers

Influence of multiple cysteines on human 3-hydroxy-3-methylglutaryl-CoA lyase activity and formation of inter-subunit adducts.

Montgomery C et al.

Archives of Biochemistry and Biophysics, 2011

Functional insights into human HMG-CoA lyase from structures of Acyl-CoA-containing ternary complexes.

Fu Z et al.

The Journal of Biological Chemistry, 2010

3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.

Zafeiriou DI et al.

Pediatric Neurology, 2007

Evaluation of cysteine 266 of human 3-hydroxy-3-methylglutaryl-CoA lyase as a catalytic residue.

Roberts JR et al.

The Journal of Biological Chemistry, 1995

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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."