Varaico: Literature-Extracted Genetic Variants

Gene:AHCY
Variant:p.K426R
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AHCY

NM_000687.4:p.K426R

Associated Papers

S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome.

Vugrek O et al.

Human Mutation, 2009

A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide.

Beluzić R et al.

The Biochemical Journal, 2006

Structure and function of S-adenosylhomocysteine hydrolase.

Turner MA et al.

Cell Biochemistry and Biophysics, 2000

A single mutation at lysine 426 of human placental S-adenosylhomocysteine hydrolase inactivates the enzyme.

Ault-Riché DB et al.

The Journal of Biological Chemistry, 1994

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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."