Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A5
Variant:p.V270E
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SLC5A5

NM_000453.3:p.V270E

Associated Papers

Structural insights into the mechanism of the sodium/iodide symporter.

Ravera S et al.

Nature, 2022

An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.

Bernal Barquero CE et al.

Thyroid : Official Journal of the American Thyroid Association, 2022

Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.

Geysels RC et al.

Frontiers in Endocrinology, 2022

Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.

Martín M et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

The Iodide Transport Defect-Causing Y348D Mutation in the Na+/I- Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane.

Reyna-Neyra A et al.

Thyroid : Official Journal of the American Thyroid Association, 2021

Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.

Zhang CX et al.

Frontiers in Endocrinology, 2021

Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.

Martín M et al.

Thyroid : Official Journal of the American Thyroid Association, 2019

A Carboxy-Terminal Monoleucine-Based Motif Participates in the Basolateral Targeting of the Na+/I- Symporter.

Martín M et al.

Endocrinology, 2019

The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.

Ravera S et al.

Annual Review of Physiology, 2017

A systematic evaluation of sorting motifs in the sodium-iodide symporter (NIS).

Darrouzet E et al.

The Biochemical Journal, 2016

Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.

Nicola JP et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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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."