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SERPINE2

Synonyms
GDN, GDNPF, PI-7, PI7, PN-1, PN1, PNI
External resources
Summary
This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. 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
2,068
Likely benign
1,794
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SERPINE2 gene.

Phenotype class
Patients in 3billion (%)

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