MAGI2

membrane associated guanylate kinase, WW and PDZ domain containing 2

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. [provided by RefSeq, Jul 2008]

Known Variants358 total

rsidPosition (GRCh37)AllelesClassClinVar
rs778023017:77,648,533C/T—likely benign
rs1885979427:77,648,566C/G—likely benign
rs7618558867:77,648,643C/T—uncertain significance
rs5765797967:77,648,647C/T—likely benign
rs134383027:77,648,671G/C—benign
rs7791003287:77,648,695C/T—likely benign
rs10532396537:77,648,726C/A—uncertain significance
rs29604527:77,648,731C/G—benign
rs14054639827:77,648,741C/T—uncertain significance
rs15848459857:77,648,745G/C—uncertain significance
rs9963778177:77,648,768C/T—uncertain significance
rs9027209887:77,648,779A/G—likely benign
rs9522724247:77,648,784C/T—likely benign
rs18080795287:77,648,793C/A—uncertain significance
rs12900814367:77,648,808C/T—uncertain significance
rs9835745327:77,648,810C/T—uncertain significance
rs12943870147:77,648,817C/T—conflicting classifications of pathogenicity
rs9608099697:77,648,826G/A—uncertain significance
rs13010918687:77,648,831G/T—uncertain significance
rs18080909317:77,648,846G/A—uncertain significance
rs18080918467:77,648,850C/A—uncertain significance
rs12671394177:77,648,852G/A—likely benign
rs9921833177:77,648,854G/C—likely benign
rs13438915597:77,648,869G/C—likely benign
rs18080980867:77,648,877A/G—uncertain significance
rs15848472897:77,648,885G/A—uncertain significance
rs7947273607:77,648,891C/G—uncertain significance
rs12432184407:77,648,912G/T—uncertain significance
rs10086475627:77,648,932G/A—likely benign
rs21510304797:77,648,945A/C—uncertain significance
rs11790580087:77,648,971G/C—likely benign
rs18081161737:77,648,977G/A—likely benign
rs15630081207:77,648,986G/A—uncertain significance
rs7730827287:77,648,999C/A—conflicting classifications of pathogenicity
rs7610411807:77,649,019C/T—likely benign
rs3756869347:77,649,049C/T—likely benign
rs7577142317:77,649,081T/G—uncertain significance
rs13254772737:77,649,082C/T—likely benign
rs1170544567:77,649,085T/C—likely benign
rs1456484537:77,649,089C/T—likely benign
rs7584910467:77,649,121G/A—likely benign
rs5697896977:77,649,145A/C—likely benign
rs1452534647:77,649,196T/A—benign
rs7676647427:77,649,198A/C—uncertain significance
rs7528507107:77,649,202A/G—uncertain significance
rs24842367677:77,649,203G/A—uncertain significance
rs14775006007:77,649,210G/A—uncertain significance
rs1409320897:77,649,214G/C—benign
rs7797503797:77,649,219C/G—uncertain significance
rs8880496357:77,649,220G/C—uncertain significance
rs1877737867:77,649,235G/A—likely benign
rs5557985057:77,649,261C/T—uncertain significance
rs7608347887:77,649,280G/A—likely benign
rs11853338497:77,649,291C/A—uncertain significance
rs7808180917:77,649,302G/T—uncertain significance
rs7693234157:77,649,303G/A—uncertain significance
rs24842410047:77,649,310C/T—likely benign
rs715375147:77,649,514C/T—benign
rs7578637:77,671,381A/C——
rs731365957:77,708,131A/G—benign
rs1834073247:77,708,252C/T—likely benign
rs1882939107:77,708,259C/T—conflicting classifications of pathogenicity
rs12906584787:77,708,260G/A—likely benign
rs18156709267:77,708,269T/G—uncertain significance
rs1415332807:77,708,283C/T—likely benign
rs126659557:77,708,731A/G—benign
rs1145055747:77,754,774A/C—likely benign
rs7493749897:77,754,997G/T—likely benign
rs3700580697:77,755,018C/T—uncertain significance
rs24853120897:77,755,030A/G—uncertain significance
rs15631535427:77,755,128C/T—uncertain significance
rs3771956767:77,755,137A/T—uncertain significance
rs2013935557:77,755,168G/A—likely benign
rs7531194887:77,755,173A/G—likely benign
rs20239467:77,755,197G/A—benign
rs19900317:77,755,345G/C—benign
rs20746407:77,756,275C/T—benign
rs1176162087:77,756,277T/C—benign
rs5877803887:77,756,537G/C—uncertain significance
rs1440840717:77,756,556G/A—uncertain significance
rs7584725677:77,756,558G/T—uncertain significance
rs20746417:77,756,580T/C—benign
rs7488993777:77,756,624C/A—uncertain significance
rs14411587757:77,756,652C/T—likely benign
rs10139554597:77,756,716T/C—uncertain significance
rs78120157:77,756,724T/C—benign
rs1122517707:77,756,751G/A—likely benign
rs733647607:77,756,800G/C—likely benign
rs96561097:77,756,815G/T—benign
rs20746427:77,756,849C/T—benign
rs20746437:77,756,865T/C—benign
rs1178184317:77,761,936C/T—likely benign
rs20746467:77,762,013C/T—benign
rs757118907:77,762,050A/G—benign
rs1447432027:77,762,214G/A—benign
rs24854087177:77,762,245G/T—uncertain significance
rs14181431777:77,762,286C/T—uncertain significance
rs3751720757:77,762,293A/G—uncertain significance
rs12823581387:77,762,295G/T—likely benign
rs1485268897:77,762,326G/A—uncertain significance

Showing 100 of 358 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.