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KCNK2

Synonyms
K2p2.1, TPKC1, TREK, TREK-1, TREK1, hTREK-1c, hTREK-1e
External resources
Summary
This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found 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
10,427
Likely benign
415
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KCNK2 gene.

Phenotype class
Patients in 3billion (%)

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