Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A4
Variant:p.R251W
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SLC39A4

NM_130849.4:p.R251W

Associated Papers

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Farooq S et al.

Frontiers in Genetics, 2025

41555927 (PubMed )
Supplement: Table1.xlsx › Family_2_WDR62

Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.

Diefenbach RJ et al.

Cancers, 2019

31795494 (PubMed )
Supplement: cancers-11-01905-s001.zip › cancers-620854-final-supplementary › cancers-620854-final-supplementary_-.xlsx › Table_S2

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

Abu-Duhier F et al.

Dermatology Research and Practice, 2018

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

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.

Küry S et al.

Human Mutation, 2003

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

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."