SLC12A6 Back

solute carrier family 12 (potassium/chloride transporters), member 6

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NCBI Description of SLC12A6

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.

Community Annotation of SLC12A6 Add / Edit SLC12A6: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SLC12A6 is highly significantly mutated in
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SLC12A6 is significantly mutated in
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SLC12A6 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for SLC12A6