Varaico: Literature-Extracted Genetic Variants

Gene:IYD
Variant:p.I74F
Back to variants list

IYD

NM_203395.3:p.I74F

Associated Papers

Structural and catalytic consequences of active-site vs. distal mutations in human dehalogenase: insights from molecular dynamics simulations.

Karmakar S et al.

Physical Chemistry Chemical Physics : Pccp, 2026

Hypothyroidism due to biallelic variants in IYD: description of 4 families and a novel variant.

Boros E et al.

European Journal of Endocrinology, 2024

The Caenorhabditis elegans iodotyrosine deiodinase ortholog SUP-18 functions through a conserved channel SC-box to regulate the muscle two-pore domain potassium channel SUP-9.

de la Cruz IP et al.

Plos Genetics, 2014

Genetic causes of congenital hypothyroidism due to dyshormonogenesis.

Grasberger H et al.

Current Opinion in Pediatrics, 2011

Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.

Moreno JC et al.

Molecular and Cellular Endocrinology, 2010

Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.

Afink G et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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."