Varaico: Literature-Extracted Genetic Variants

Gene:SLC41A1
Variant:p.A350V
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SLC41A1

NM_173854.6:p.A350V

Associated Papers

The human MRS2 magnesium-binding domain is a regulatory feedback switch for channel activity.

Uthayabalan S et al.

Life Science Alliance, 2023

Functional characteristics and therapeutic potential of SLC41 transporters.

Nemoto T et al.

Journal of Pharmacological Sciences, 2023

Alzheimer's Disease-Associated SNP rs708727 in SLC41A1 May Increase Risk for Parkinson's Disease: Report from Enlarged Slovak Study.

Cibulka M et al.

International Journal of Molecular Sciences, 2022

SNPs rs11240569, rs708727, and rs823156 in SLC41A1 Do Not Discriminate Between Slovak Patients with Idiopathic Parkinson's Disease and Healthy Controls: Statistics and Machine-Learning Evidence.

Cibulka M et al.

International Journal of Molecular Sciences, 2019

PARK16 is associated with PD in the Malaysian population.

Gopalai AA et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016

PARK16 polymorphisms, interaction with smoking, and sporadic Parkinson's disease in Japan.

Miyake Y et al.

Journal of the Neurological Sciences, 2016

SLC41A1 and TRPM7 in magnesium homeostasis and genetic risk for Parkinson's disease.

Sturgeon M et al.

Journal of Neurology & Neuromedicine, 2016

Genetic analysis of SLC41A1 in Chinese Parkinson's disease patients.

Wang L et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2015

Population-Based Genetic Studies: The Search for Causative Variants in Parkinson's Disease.

Ramirez A

Movement Disorders : Official Journal of the Movement Disorder Society, 2015

Magnesium in man: implications for health and disease.

de Baaij JH et al.

Physiological Reviews, 2015

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

Venco P et al.

Frontiers in Genetics, 2015

An association analysis of the rs1572931 polymorphism of the RAB7L1 gene in Parkinson's disease, amyotrophic lateral sclerosis and multiple system atrophy in China.

Guo XY et al.

European Journal of Neurology, 2014

Variant R244H in Na+/Mg2+ exchanger SLC41A1 in Taiwanese Parkinson's disease is associated with loss of Mg2+ efflux function.

Lin CH et al.

Parkinsonism & Related Disorders, 2014

Abnormal differentiation of dopaminergic neurons in zebrafish trpm7 mutant larvae impairs development of the motor pattern.

Decker AR et al.

Developmental Biology, 2014

P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population.

Ma Q et al.

Behavioral and Brain Functions : Bbf, 2013

Substitution p.A350V in Na⁺/Mg²⁺ exchanger SLC41A1, potentially associated with Parkinson's disease, is a gain-of-function mutation.

Kolisek M et al.

Plos One, 2013

Solute Carrier Family SLC41, what do we really know about it?

Fleig A et al.

Wiley Interdisciplinary Reviews. Membrane Transport and Signaling, 2013

An association between the PARK16 locus and Parkinson's disease in a cohort from eastern China.

Yan YP et al.

Parkinsonism & Related Disorders, 2011

Association of GWAS loci with PD in China.

Chang XL et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2011

Genetic variability at the PARK16 locus.

Tucci A et al.

European Journal of Human Genetics : Ejhg, 2010

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