Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.L45P
Back to variants list

OTC

NM_000531.6:p.L45P

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

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M et al.

Human Mutation, 2002

1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency.

Shi D et al.

The Journal of Biological Chemistry, 1998

The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

Tuchman M et al.

Journal of Inherited Metabolic Disease, 1998

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."