DOK7

docking protein 7

Summary

The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Known Variants837 total

rsidPosition (GRCh37)AllelesClassClinVar
rs730790814:3,464,773G/T—benign
rs5357498144:3,464,929G/A—likely benign
rs1461688044:3,465,073T/G—likely benign
rs1918001564:3,465,097C/G—likely benign
rs24749615814:3,465,108C/T—likely benign
rs7632337434:3,465,109G/A—uncertain significance
rs12026937764:3,465,114G/A—likely benign
rs7687987564:3,465,129C/A—likely benign
rs24749617064:3,465,130C/T—pathogenic
rs13419266384:3,465,132G/A—likely benign
rs3704219894:3,465,133G/C—uncertain significance
rs3751685164:3,465,134T/C—uncertain significance
rs3681060714:3,465,138G/T—uncertain significance
rs24749617834:3,465,144G/A—likely benign
rs17260725304:3,465,145G/A—uncertain significance
rs7590547724:3,465,147C/T—likely benign
rs7648244614:3,465,148G/C—uncertain significance
rs24749618354:3,465,150C/G—likely benign
rs17260739764:3,465,151A/C—uncertain significance
rs15602009714:3,465,159C/T—uncertain significance
rs13027391854:3,465,163G/A—likely benign
rs5776879984:3,465,164C/T—uncertain significance
rs12224029374:3,465,165G/A—likely benign
rs12607852234:3,465,166C/T—likely benign
rs7513330724:3,465,167G/A—likely benign
rs9123275954:3,465,169C/T—likely benign
rs24749619814:3,465,172G/A—likely benign
rs7570536044:3,465,175C/T—likely benign
rs14801128174:3,465,176G/A—likely benign
rs8658936254:3,465,177C/T—likely benign
rs17260791124:3,465,178G/A—likely benign
rs7810511124:3,465,179G/T—likely benign
rs7457918564:3,465,180G/A—likely benign
rs7697914904:3,465,181G/A—likely benign
rs5435257514:3,465,182G/T—likely benign
rs7744680594:3,465,183G/C—likely benign
rs7725752554:3,465,184G/T—likely benign
rs7670308574:3,465,185G/T—likely benign
rs5625287614:3,465,186G/T—likely benign
rs7624043264:3,465,187G/T—likely benign
rs7637397804:3,465,188G/C—likely benign
rs9439894204:3,465,189G/C—likely benign
rs7511884944:3,465,190C/T—likely benign
rs11701485164:3,465,192C/G—likely benign
rs24749624104:3,465,194G/C—likely benign
rs11672113254:3,465,195G/A—likely benign
rs13163346134:3,465,214C/T—likely benign
rs12944367174:3,465,216C/T—likely benign
rs9765729364:3,465,217C/T—likely benign
rs12028557414:3,465,218C/G—likely benign
rs8860387444:3,465,220C/G—likely benign
rs12923359244:3,465,221C/G—likely benign
rs8860439434:3,465,223G/T—uncertain significance
rs21093124154:3,465,225C/T—likely benign
rs17260925354:3,465,229G/A—likely benign
rs8632232774:3,465,232G/T—pathogenic
rs24749625774:3,465,238G/A—likely benign
rs7569627384:3,465,243G/A—uncertain significance
rs17260932174:3,465,244G/A—likely benign
rs21093124614:3,465,246G/A—likely pathogenic
rs5762153664:3,465,260A/C—conflicting classifications of pathogenicity
rs9023839874:3,465,263C/G—uncertain significance
rs14782572704:3,465,264C/T—uncertain significance
rs13668149114:3,465,265G/A—likely benign
rs14105076394:3,465,271C/T—likely benign
rs14176732874:3,465,272G/A—conflicting classifications of pathogenicity
rs17260958144:3,465,274G/A—likely benign
rs14258528354:3,465,275G/A—uncertain significance
rs24749627084:3,465,276C/T—uncertain significance
rs14233679404:3,465,289C/G—likely benign
rs17260969724:3,465,290G/A—likely benign
rs17260970754:3,465,292G/C—likely benign
rs10393935834:3,465,293C/A—likely benign
rs9296891294:3,465,295G/A—likely benign
rs13618438794:3,465,296G/A—likely benign
rs1390510354:3,465,344A/G—benign
rs76638754:3,465,439C/T—benign
rs1498951484:3,465,452A/C—likely benign
rs76922454:3,465,566G/C—benign
rs5518543004:3,468,719C/A——
rs622758804:3,469,826A/Tintron variant—
rs362053974:3,470,604A/G——
rs68312564:3,473,139A/Gintron variant—
rs737939164:3,474,784G/C—likely benign
rs23442084:3,475,107G/A—benign
rs24749942144:3,475,113G/A—likely benign
rs7672083204:3,475,115C/T—likely benign
rs3728321874:3,475,116G/A—likely benign
rs7559330244:3,475,117G/A—likely benign
rs7662713194:3,475,118C/T—likely benign
rs7549965324:3,475,121C/T—likely benign
rs23442094:3,475,122G/A—benign
rs11809192324:3,475,125C/G—likely benign
rs12837941464:3,475,141C/T—likely benign
rs21093358754:3,475,143G/A—likely benign
rs8796042854:3,475,144A/T—uncertain significance
rs14052278344:3,475,149G/A—likely benign
rs24749945194:3,475,161C/T—likely benign
rs622726704:3,475,166C/T—likely benign
rs13362711464:3,475,167G/A—likely benign

Showing 100 of 837 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.