rs117616208
This variant is located in the MAGI2 gene.
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout MAGI2
The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]
View all MAGI2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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