rs6755194
This is a upstream gene variant variant in the CAPN14 gene.
About CAPN14
Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]
View all CAPN14 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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