Varaico: Literature-Extracted Genetic Variants

Gene:FECH
Variant:p.E343Q
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FECH

NM_000140.5:p.E343Q

Associated Papers

Insight into the function of active site residues in the catalytic mechanism of human ferrochelatase.

Medlock AE et al.

The Biochemical Journal, 2021

Altered orientation of active site residues in variants of human ferrochelatase. Evidence for a hydrogen bond network involved in catalysis.

Dailey HA et al.

Biochemistry, 2007

Human ferrochelatase: characterization of substrate-iron binding and proton-abstracting residues.

Sellers VM et al.

Biochemistry, 2001

The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis.

Wu CK et al.

Nature Structural Biology, 2001

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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."