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ATP12A

Synonyms
ATP1AL1, H-K-ATPase, HK
External resources
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two 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
4,237
Likely benign
2,739
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ATP12A gene.

Phenotype class
Patients in 3billion (%)

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