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CIB1

Synonyms
CIB, CIBP, KIP1, PRKDCIP, SIP2-28
External resources
Summary
This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants.

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
5,833
Likely benign
1,456
Benign
838

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CIB1 gene.

Phenotype class
Patients in 3billion (%)

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