Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A5
Variant:p.R1048W
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SLC12A5

NM_020708.5:p.R1048W

Associated Papers

Regulated degradation of KCC2, a potassium-chloride co-transporter required for synaptic transmission and neurodevelopment.

Kok M et al.

Channels (austin, Tex.), 2026

Inefficient maturation of disease-linked mutant forms of the KCC2 potassium-chloride cotransporter correlates with predicted pathogenicity.

Kok M et al.

The Journal of Biological Chemistry, 2025

Pathogenic potential of human SLC12A5 variants causing KCC2 dysfunction.

Fukuda A et al.

Brain Research, 2019

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.

Merner ND et al.

Frontiers in Cellular Neuroscience, 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."