Varaico: Literature-Extracted Genetic Variants

Gene:COX4I2
Variant:p.E138K
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COX4I2

NM_032609.3:p.E138K

Associated Papers

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Quaternary protein modeling to predict the function of DNA variation found in human mitochondrial cytochrome c oxidase.

Horan MP et al.

Journal of Human Genetics, 2013

Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.

Shteyer E et al.

American Journal of Human Genetics, 2009

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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."