Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A6
Variant:p.C350S
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SLC12A6

NM_001365088.1:p.C350S

Associated Papers

Osmotic Response of Dorsal Root Ganglion Neurons Expressing Wild-Type and Mutant KCC3 Transporters.

Flores B et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2020

Regulated phosphorylation of the K-Cl cotransporter KCC3 is a molecular switch of intracellular potassium content and cell volume homeostasis.

Adragna NC et al.

Frontiers in Cellular Neuroscience, 2015

N-terminal serine dephosphorylation is required for KCC3 cotransporter full activation by cell swelling.

Melo Z et al.

The Journal of Biological Chemistry, 2013

Sites of regulated phosphorylation that control K-Cl cotransporter activity.

Rinehart J et al.

Cell, 2009

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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."