rs376894698
This variant is located in the SPINT2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout SPINT2
This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
View all SPINT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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