Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A10
Variant:p.D40A
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SLC30A10

NM_018713.3:p.D40A

Associated Papers

Molecular mechanisms of SLC30A10-mediated manganese transport.

Shen X et al.

Nature Communications, 2025

Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.

Fang S et al.

Journal of Inherited Metabolic Disease, 2025

40320765 (PubMed )
Supplement: JIMD-48-0-s001.xlsx › Sheet1

Case Report: Childhood Erythrocytosis due to Hypermanganesemia Caused by Homozygous SLC30A10 Mutation.

Coppola T et al.

Frontiers in Hematology, 2024

Manganese efflux transporter SLC30A10 missense polymorphism T95I associated with liver injury retains manganese efflux activity.

Gurol KC et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2023

Genetic Disorders of Manganese Metabolism.

Anagianni S et al.

Current Neurology and Neuroscience Reports, 2019

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

Zaki MS et al.

Clinical Genetics, 2018

Structural Elements in the Transmembrane and Cytoplasmic Domains of the Metal Transporter SLC30A10 Are Required for Its Manganese Efflux Activity.

Zogzas CE et al.

The Journal of Biological Chemistry, 2016

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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."