Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y138F
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PAH

NM_000277.3:p.Y138F

Associated Papers

Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.

Flydal MI et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Substituting Tyr138 in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation.

Leandro J et al.

Febs Open Bio, 2017

A flexible loop in tyrosine hydroxylase controls coupling of amino acid hydroxylation to tetrahydropterin oxidation.

Daubner SC et al.

Journal of Molecular Biology, 2006

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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."