Varaico: Literature-Extracted Genetic Variants

Gene:TPO
Variant:p.A373S
Back to variants list

TPO

NM_001206744.2:p.A373S

Associated Papers

Altered carnitine-acylcarnitine profiles in levothyroxine-treated congenital hypothyroid patients with fatigue: An LC-MS/MS-based study from Bangladesh.

Begum MN et al.

Plos One, 2025

Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.

Arteaga-Jacobo MC et al.

Medicina (kaunas, Lithuania), 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

High-resolution melt curve analysis: An approach for variant detection in the TPO gene of congenital hypothyroid patients in Bangladesh.

Begum MN et al.

Plos One, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Investigation of the impact of nonsynonymous mutations on thyroid peroxidase dimer.

Begum MN et al.

Plos One, 2023

Molecular insights into the role of genetic determinants of congenital hypothyroidism.

Kollati Y et al.

Genomics & Informatics, 2021

Graves' disease: introducing new genetic and epigenetic contributors.

Razmara E et al.

Journal of Molecular Endocrinology, 2021

Mutation Spectrum in TPO Gene of Bangladeshi Patients with Thyroid Dyshormonogenesis and Analysis of the Effects of Different Mutations on the Structural Features and Functions of TPO Protein through In Silico Approach.

Begum MN et al.

Biomed Research International, 2019

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

Bougacha-Elleuch N et al.

European Journal of Pediatrics, 2015

Functional analysis of thyroid peroxidase gene mutations detected in patients with thyroid dyshormonogenesis.

Guria S et al.

International Journal of Endocrinology, 2014

Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism.

Ma SG et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2012

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.

Belforte FS et al.

Clinical Endocrinology, 2012

Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.

Turkkahraman D et al.

Endocrine, 2010

Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO).

Turkkahraman D et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009

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

High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.

Avbelj M et al.

European Journal of Endocrinology, 2007

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."