Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.C808R
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TPO

NM_001206744.2:p.C808R

Associated Papers

Disulfide Bonds of Thyroid Peroxidase Are Critical Elements for Subcellular Localization, Proteasome-Dependent Degradation, and Enzyme Activity.

Iwasaki H et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.

Chiesa A et al.

Endocrine, 2010

Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.

Rivolta CM et al.

Clinical Endocrinology, 2007

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

Rivolta CM et al.

Human Mutation, 2003

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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."