Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A4
Variant:p.G630R
Back to variants list

SLC39A4

NM_130849.4:p.G630R

Associated Papers

A Missense Variant in SLC39A4 in a Litter of Turkish Van Cats with Acrodermatitis Enteropathica.

Kiener S et al.

Genes, 2021

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

Abu-Duhier F et al.

Dermatology Research and Practice, 2018

Crystal structures of a ZIP zinc transporter reveal a binuclear metal center in the transport pathway.

Zhang T et al.

Science Advances, 2017

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

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

The acrodermatitis enteropathica gene ZIP4 encodes a tissue-specific, zinc-regulated zinc transporter in mice.

Dufner-Beattie J et al.

The Journal of Biological Chemistry, 2003

Novel SLC39A4 mutations in acrodermatitis enteropathica.

Nakano A et al.

The Journal of Investigative Dermatology, 2003

A novel member of a zinc transporter family is defective in acrodermatitis enteropathica.

Wang K et al.

American Journal of Human Genetics, 2002

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."