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WFIKKN1

Synonyms
C16orf12, RJD2, WFDC20A, WFIKKN
External resources
Summary
This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases.

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
5,015
Likely benign
579
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on WFIKKN1 gene.

Phenotype class
Patients in 3billion (%)

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