Varaico: Literature-Extracted Genetic Variants

Gene:MPO
Variant:p.R499C
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MPO

NM_000250.2:p.R499C

Associated Papers

Prediction of the Effects of Missense Mutations on Human Myeloperoxidase Protein Stability Using In Silico Saturation Mutagenesis.

Sobitan A et al.

Genes, 2022

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.

Haskamp S et al.

American Journal of Human Genetics, 2020

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.

Vergnano M et al.

American Journal of Human Genetics, 2020

32758448 (PubMed )
Supplement: mmc1.pdf

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

Functional consequence of positive selection revealed through rational mutagenesis of human myeloperoxidase.

Loughran NB et al.

Molecular Biology and Evolution, 2012

Impact of two novel mutations on the structure and function of human myeloperoxidase.

Goedken M et al.

The Journal of Biological Chemistry, 2007

Arginine to cysteine mutation (R499C) found in a Japanese patient with complete myeloperoxidase deficiency.

Persad AS et al.

Gene Expression, 2006

Biosynthesis and sorting of myeloperoxidase in hematopoietic cells.

Olsson I et al.

Japanese Journal of Infectious Diseases, 2004

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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."