Varaico: Literature-Extracted Genetic Variants

Gene:SLC16A2
Variant:p.H75L
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SLC16A2

NM_006517.5:p.H75L

Associated Papers

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Groeneweg S et al.

Nature Communications, 2025

40075072 (PubMed )
Supplement: 41467_2025_56628_MOESM1_ESM.pdf

Insights Into the Mechanism of MCT8 Oligomerization.

Groeneweg S et al.

Journal of the Endocrine Society, 2020

Thyroid Hormone Transporters.

Groeneweg S et al.

Endocrine Reviews, 2020

Membrane-traversing mechanism of thyroid hormone transport by monocarboxylate transporter 8.

Protze J et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Disorder of thyroid hormone transport into the tissues.

Groeneweg S et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2017

Few Amino Acid Exchanges Expand the Substrate Spectrum of Monocarboxylate Transporter 10.

Johannes J et al.

Molecular Endocrinology (baltimore, Md.), 2016

Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.

Fischer J et al.

Journal of Molecular Endocrinology, 2015

Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels.

Boccone L et al.

European Journal of Medical Genetics, 2013

Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.

Kleinau G et al.

Thyroid Research, 2011

Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.

Kinne A et al.

The Journal of Biological Chemistry, 2010

Genetics and phenomics of thyroid hormone transport by MCT8.

Friesema EC et al.

Molecular and Cellular Endocrinology, 2010

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