Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A4
Variant:p.Q303H
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SLC39A4

NM_130849.4:p.Q303H

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature.

Zhong W et al.

Bmc Pediatrics, 2020

31987033 (PubMed )
Supplement: 12887_2020_1942_MOESM1_ESM.xlsx › Sheet1

Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East.

Abu-Duhier F et al.

Dermatology Research and Practice, 2018

Structural insights of ZIP4 extracellular domain critical for optimal zinc transport.

Zhang T et al.

Nature Communications, 2016

Genetic causes and gene–nutrient interactions in mammalian zinc deficiencies: acrodermatitis enteropathica and transient neonatal zinc deficiency as examples.

Kasana S et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2015

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.

Schmitt S et al.

Human Mutation, 2009

Regulation and function of Zip4, the acrodermatitis enteropathica gene.

Andrews GK

Biochemical Society Transactions, 2008

Acrodermatitis enteropathica mutations affect transport activity, localization and zinc-responsive trafficking of the mouse ZIP4 zinc transporter.

Wang F et al.

Human Molecular Genetics, 2004

Novel SLC39A4 mutations in acrodermatitis enteropathica.

Nakano A et al.

The Journal of Investigative Dermatology, 2003

Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.

Kuliyev E et al.

The Journal of Biological Chemistry, 0

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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."