Varaico: Literature-Extracted Genetic Variants

Gene:CPT1A
Variant:p.T314S
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CPT1A

NM_001876.4:p.T314S

Associated Papers

Definition by functional and structural analysis of two malonyl-CoA sites in carnitine palmitoyltransferase 1A.

López-Viñas E et al.

The Journal of Biological Chemistry, 2007

Identification of conserved amino acid residues in rat liver carnitine palmitoyltransferase I critical for malonyl-CoA inhibition. Mutation of methionine 593 abolishes malonyl-CoA inhibition.

Morillas M 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."