ANK3

ankyrin 3

Summary

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

Known Variants1,151 total

rsidPosition (GRCh37)AllelesClassClinVar
rs104986210:61,789,272G/A3 prime UTR variant—
rs239360310:61,802,342C/A—benign
rs239360410:61,802,353A/T—benign
rs239360510:61,802,374A/T—benign
rs239360610:61,802,375A/T—benign
rs37360677610:61,802,440C/A—uncertain significance
rs20116988610:61,802,453G/A—uncertain significance
rs14171319710:61,802,474T/A—conflicting classifications of pathogenicity
rs77941140110:61,802,476C/T—likely benign
rs14193931510:61,802,477C/T—likely benign
rs55678217310:61,802,478G/A—uncertain significance
rs76877625010:61,802,497C/T—uncertain significance
rs207632540010:61,802,501T/A—uncertain significance
rs37272070810:61,802,529G/A—benign
rs988803310:61,802,550A/T—benign
rs239360710:61,802,561G/T—benign
rs100244210:61,803,062T/Gintron variant—
rs14277811910:61,815,396C/T—likely benign
rs36818053810:61,815,397G/A—likely benign
rs53709574710:61,815,404C/A—likely benign
rs14938733710:61,815,440C/G—uncertain significance
rs249239675010:61,815,444T/C—uncertain significance
rs74844944510:61,815,451G/A—uncertain significance
rs14849821210:61,815,455G/T—conflicting classifications of pathogenicity
rs77533802610:61,815,457T/G—uncertain significance
rs98460154110:61,815,477G/A—uncertain significance
rs14184965210:61,815,491A/G—likely benign
rs14731898210:61,815,492C/A—uncertain significance
rs76325274410:61,815,494C/T—uncertain significance
rs96048181710:61,815,507C/T—uncertain significance
rs249239770610:61,815,533T/G—uncertain significance
rs130890407210:61,815,545C/A—uncertain significance
rs91480157610:61,815,645G/A—uncertain significance
rs76423789310:61,815,647A/G—likely benign
rs119470347010:61,815,659T/G—likely benign
rs213191421710:61,815,662A/C—uncertain significance
rs7496159010:61,815,665A/G—likely benign
rs249239893810:61,815,668T/G—uncertain significance
rs1226179310:61,815,712T/C—benign
rs79704523110:61,815,729T/C—uncertain significance
rs99593604010:61,815,741T/C—uncertain significance
rs14794117310:61,815,753C/T—uncertain significance
rs1073375710:61,819,049T/G—benign
rs76903821110:61,819,110C/T—uncertain significance
rs75369469810:61,819,112A/T—conflicting classifications of pathogenicity
rs74557436610:61,819,128G/C—uncertain significance
rs145612564910:61,819,134C/G—uncertain significance
rs75813651310:61,819,135T/C—uncertain significance
rs77978425810:61,819,137C/T—uncertain significance
rs37518885510:61,819,147C/T—uncertain significance
rs207989009510:61,819,155T/G—uncertain significance
rs77451873210:61,819,181C/T—likely benign
rs155484434210:61,819,189C/T—uncertain significance
rs249242890610:61,819,494A/T—uncertain significance
rs13909204810:61,819,543C/A—likely benign
rs15127867410:61,819,565A/G—benign
rs77894700910:61,819,623C/T—likely benign
rs20184588110:61,819,668G/C—uncertain significance
rs55583179010:61,819,684A/C—likely benign
rs136283466910:61,822,849T/C—likely benign
rs75526549610:61,822,862C/T—uncertain significance
rs208093664710:61,822,877G/A—uncertain significance
rs249245782710:61,822,893T/C—uncertain significance
rs14044022710:61,822,895T/C—uncertain significance
rs131714060310:61,822,900A/G—likely benign
rs77621677210:61,822,933A/G—likely benign
rs19985035210:61,822,944T/C—uncertain significance
rs37434607410:61,822,969A/G—likely benign
rs75507335410:61,822,996C/T—likely benign
rs56529847910:61,822,997G/A—uncertain significance
rs145094596810:61,823,024A/G—likely benign
rs119171551710:61,823,026A/T—likely benign
rs37284967710:61,823,907C/T—likely benign
rs18437015510:61,823,930C/T—uncertain significance
rs14544094610:61,823,931G/A—likely benign
rs99832913910:61,823,949T/C—likely benign
rs75636951510:61,823,951T/C—uncertain significance
rs249246796910:61,823,952T/A—uncertain significance
rs102579716310:61,823,960T/C—uncertain significance
rs78008804010:61,823,998C/T—uncertain significance
rs76822061510:61,824,010A/G—uncertain significance
rs155485216710:61,824,041C/A—uncertain significance
rs208119235010:61,824,051A/G—likely benign
rs36841783010:61,824,055A/C—likely benign
rs13807393510:61,827,718G/A—conflicting classifications of pathogenicity
rs74886385310:61,827,731A/G—uncertain significance
rs130202703110:61,827,737A/G—uncertain significance
rs77484708610:61,827,746C/T—uncertain significance
rs124171962610:61,827,747G/A—uncertain significance
rs52794038810:61,827,771C/T—uncertain significance
rs20019021210:61,827,772G/A—conflicting classifications of pathogenicity
rs98227954410:61,827,783T/A—likely benign
rs77866444610:61,828,410T/G—uncertain significance
rs146717446310:61,828,412C/T—uncertain significance
rs54924877810:61,828,419C/T—uncertain significance
rs14083012510:61,828,425C/G—conflicting classifications of pathogenicity
rs54946367010:61,828,488T/C—likely benign
rs18312625910:61,828,495C/T—benign
rs37413432810:61,828,496G/A—uncertain significance
rs20111522610:61,828,521C/T—uncertain significance

Showing 100 of 1,151 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

ANK3 — ankyrin 3