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CPNE2

Synonyms
COPN2, CPN2
External resources
Summary
Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined.

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
11,670
Likely benign
1,831
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CPNE2 gene.

Phenotype class
Patients in 3billion (%)

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