Varaico: Literature-Extracted Genetic Variants

Gene:SRC
Variant:p.E457A
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SRC

NM_198291.3:p.E457A

Associated Papers

Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

Thyroid hormone receptors and resistance to thyroid hormone disorders.

Ortiga-Carvalho TM et al.

Nature Reviews. Endocrinology, 2014

The nuclear receptor corepressor (NCoR) controls thyroid hormone sensitivity and the set point of the hypothalamic-pituitary-thyroid axis.

Astapova I et al.

Molecular Endocrinology (baltimore, Md.), 2011

In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice.

Alonso M et al.

Endocrinology, 2009

A novel natural mutation in the thyroid hormone receptor defines a dual functional domain that exchanges nuclear receptor corepressors and coactivators.

Tagami T et al.

Molecular Endocrinology (baltimore, Md.), 1998

An inhibitory region of the DNA-binding domain of thyroid hormone receptor blocks hormone-dependent transactivation.

Liu Y et al.

Molecular Endocrinology (baltimore, Md.), 1998

Isolation and characterization of a novel ligand-dependent thyroid hormone receptor-coactivating protein.

Monden T et al.

The Journal of Biological Chemistry, 1997

A natural transactivation mutation in the thyroid hormone beta receptor: impaired interaction with putative transcriptional mediators.

Collingwood TN et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

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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."