Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.P225R
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OTC

NM_000531.6:p.P225R

Associated Papers

Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.

Haskins N et al.

Frontiers in Physiology, 2020

33551825 (PubMed )
Supplement: Data_Sheet_1.zip › SupplementaryData_DataSheet › Supplementary_Tables_S1-S6.xlsx › Table_S4

Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.

Sun B et al.

Computational and Mathematical Methods in Medicine, 2015

26495027 (PubMed )
Supplement: 124630.f1.zip › mat.124630.v2 › Table_S2.xlsx › Acetylation

Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.

Magesh R et al.

3 Biotech, 2014

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.

García-Pérez MA et al.

Journal of Inherited Metabolic Disease, 1997

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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."