Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A8
Variant:p.I340N
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SLC39A8

NM_001135146.2:p.I340N

Associated Papers

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.1_pVACseq

An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.

Budinger D et al.

Iscience, 2025

In vitro studies of manganese transport and homeostasis.

Kim S et al.

Methods in Enzymology, 2023

Effects of individual amino acid mutations of zinc transporter ZIP8 on manganese- and cadmium-transporting activity.

Fujishiro H et al.

Biochemical and Biophysical Research Communications, 2022

Manganese transport in mammals by zinc transporter family proteins, ZNT and ZIP.

Fujishiro H et al.

Journal of Pharmacological Sciences, 2022

The Impact of ZIP8 Disease-Associated Variants G38R, C113S, G204C, and S335T on Selenium and Cadmium Accumulations: The First Characterization.

Liang ZL et al.

International Journal of Molecular Sciences, 2021

Clinical, molecular and glycophenotype insights in SLC39A8-CDG.

Bonaventura E et al.

Orphanet Journal of Rare Diseases, 2021

[Roles of Zinc Transporters That Control the Essentiality and Toxicity of Manganese and Cadmium].

Himeno S et al.

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2021

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.

Park JH et al.

Journal of Inherited Metabolic Disease, 2020

The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation.

Mealer RG et al.

Scientific Reports, 2020

The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis.

Winslow JWW et al.

International Journal of Molecular Sciences, 2020

SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside.

Nebert DW et al.

Human Genomics, 2019

Genetic Disorders of Manganese Metabolism.

Anagianni S et al.

Current Neurology and Neuroscience Reports, 2019

The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia.

Costas J

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.

Choi EK et al.

Scientific Reports, 2018

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Park JH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Molecular and pathophysiological aspects of metal ion uptake by the zinc transporter ZIP8 (SLC39A8).

Zang ZS et al.

Toxicology Research, 2016

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM et al.

American Journal of Human Genetics, 2015

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Park JH et al.

American Journal of Human Genetics, 2015

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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."