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KCNK3

Synonyms
K2p3.1, OAT1, PPH4, TASK, TASK-1, TASK1, TBAK1
External resources
Summary
This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
224
Likely benign
393
Benign
26

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KCNK3 gene.

Phenotype class
Patients in 3billion (%)

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