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KCNK5

Synonyms
K2p5.1, KCNK5b, TASK-2, TASK2
External resources
Summary
This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport.

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
1,352
Likely benign
270
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KCNK5 gene.

Phenotype class
Patients in 3billion (%)

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