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MAGI2

Synonyms
ACVRIP1, AIP-1, AIP1, ARIP1, MAGI-2, NPHS15, SSCAM
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
3,444
Likely benign
1,595
Benign
1,649

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on MAGI2 gene.

Phenotype class
Patients in 3billion (%)

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