Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.R316C
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THRB

NM_001354712.2:p.R316C

Associated Papers

Novel Thyroid Hormone Receptor β Gene Variant (F245L) Causing Mild Resistance to Thyroid Hormone.

Yamagami K et al.

Jcem Case Reports, 2025

Arginine deprivation enriches lung cancer proteomes with cysteine by inducing arginine-to-cysteine substitutants.

Yang C et al.

Molecular Cell, 2024

38759626 (PubMed )
Supplement: mmc4.xlsx › GeneMutationWithOverlap

Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone.

Okazaki-Hada M et al.

European Journal of Endocrinology, 2021

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β.

Lauffer P et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.

Tagami T

Endocrine Journal, 2021

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis.

Zhou Z et al.

Journal of Cellular Biochemistry, 2018

SNP mutations occurring in thyroid hormone receptor influenced individual susceptibility to triiodothyronine: Molecular dynamics and site-directed mutagenesis approaches.

Liu Y et al.

Journal of Cellular Biochemistry, 2018

Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).

Pappa T et al.

Methods in Molecular Biology (clifton, N.j.), 2018

Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature.

Guo QH et al.

Medicine, 2016

Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience.

Han R et al.

Endocrine, 2015

A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH.

Ueda Y et al.

Endocrine Journal, 2015

Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor.

Nakajima Y et al.

Thyroid : Official Journal of the American Thyroid Association, 2010

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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."