Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.V379D
Back to variants list

PAH

NM_000277.3:p.V379D

Associated Papers

Insights into the catalytic mechanisms of phenylalanine and tryptophan hydroxylase from kinetic isotope effects on aromatic hydroxylation.

Pavon JA et al.

Biochemistry, 2006

Reversing the substrate specificities of phenylalanine and tyrosine hydroxylase: aspartate 425 of tyrosine hydroxylase is essential for L-DOPA formation.

Daubner SC et al.

Biochemistry, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."