rs112769314
This variant is located in the RSPO2 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout RSPO2
This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
View all RSPO2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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