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IPPK

Synonyms
C9orf12, INSP5K2, IP5K, IPK1, bA476B13.1
External resources
Summary
The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export.

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
5,700
Likely benign
2,103
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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