Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A4
Variant:p.P84L
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SLC39A4

NM_130849.4:p.P84L

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Comparison of novel single nucleotide polymorphisms of zinc transporters with zinc concentration in the human blood and vaginal tissues.

Csikós A et al.

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2020

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

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

Abu-Duhier F et al.

Dermatology Research and Practice, 2018

Genomic sequencing of key genes in mouse pancreatic cancer cells.

Wang Y et al.

Current Molecular Medicine, 2012

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

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

Wang K et al.

American Journal of Human Genetics, 2002

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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."