rs387906894

This is a variant in the CORIN gene that changes a lysine to an glutamate.

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ClinVar annotation

Pathogenic

1 submitter2 publications

Preeclampsia/eclampsia 5 (PEE5)

About CORIN

This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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