rs144975236

This variant is located in the CIB1 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

About CIB1

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. [provided by RefSeq, Apr 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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