PRICKLE2

prickle planar cell polarity protein 2

Summary

This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]

Known Variants533 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1537343:64,078,009C/G
rs10564197733:64,079,635A/Guncertain significance
rs1909667823:64,079,733G/Auncertain significance
rs7502748263:64,079,850G/Auncertain significance
rs1537333:64,079,930C/Tbenign
rs8860587813:64,079,940A/Guncertain significance
rs9811639623:64,079,958T/Cuncertain significance
rs1537323:64,079,994C/Tbenign
rs8860587823:64,080,132A/Tuncertain significance
rs14042177163:64,080,196A/Guncertain significance
rs5754106683:64,080,255C/Auncertain significance
rs7462493443:64,080,272T/Cuncertain significance
rs1861862363:64,080,373G/Clikely benign
rs5380693373:64,080,397T/Auncertain significance
rs8860587833:64,080,470A/Guncertain significance
rs140563:64,080,489G/Abenign
rs13890846583:64,080,531A/Cuncertain significance
rs20765487583:64,080,545A/Guncertain significance
rs8860587843:64,080,618G/Cuncertain significance
rs8860587853:64,080,656T/Cuncertain significance
rs1409312833:64,080,670C/Tlikely benign
rs5448257763:64,080,863A/Guncertain significance
rs8860587863:64,080,865G/Tuncertain significance
rs1537313:64,080,875G/Tlikely benign
rs5748789143:64,080,897A/Guncertain significance
rs7565318773:64,080,972T/Cuncertain significance
rs9049077093:64,081,055G/Cuncertain significance
rs1406816303:64,081,095A/Guncertain significance
rs9774866423:64,081,187G/Auncertain significance
rs5380540923:64,081,223G/Auncertain significance
rs13587724493:64,081,226G/Cuncertain significance
rs20765608823:64,081,231C/Tuncertain significance
rs1537303:64,081,236C/Tbenign
rs1430621403:64,081,238T/Clikely benign
rs20765626933:64,081,369A/Tuncertain significance
rs9116670343:64,081,384C/Tuncertain significance
rs728746093:64,081,394A/Gbenign
rs5316393863:64,081,402C/Tuncertain significance
rs5289299963:64,081,549C/Glikely benign
rs10453439583:64,081,611G/Auncertain significance
rs13451987963:64,081,662G/Tuncertain significance
rs5452764423:64,081,818A/Tuncertain significance
rs347234513:64,081,836G/Abenign
rs8860587873:64,081,871G/Cuncertain significance
rs359694333:64,081,930T/Abenign
rs5308041903:64,081,945G/Cuncertain significance
rs273833:64,081,955T/Cbenign
rs124947313:64,082,003T/Gbenign
rs20765730783:64,082,061C/Auncertain significance
rs1404204173:64,082,094C/Tlikely benign
rs622498813:64,082,160T/Abenign
rs9059717253:64,082,252C/Tuncertain significance
rs562627083:64,082,280T/Cbenign
rs1845443593:64,082,336G/Auncertain significance
rs1929713263:64,082,437A/Guncertain significance
rs8660602883:64,082,439G/Auncertain significance
rs5508418593:64,082,458A/Glikely benign
rs8860587883:64,082,520G/Auncertain significance
rs20765797723:64,082,625C/Tuncertain significance
rs5776362823:64,082,638G/Auncertain significance
rs5706165233:64,082,736G/Auncertain significance
rs3777525233:64,082,745T/Cuncertain significance
rs8860587893:64,082,757A/Guncertain significance
rs8860587903:64,082,763G/Auncertain significance
rs8860587913:64,082,859C/Guncertain significance
rs269393:64,082,964T/Cbenign
rs9380480413:64,083,045G/Auncertain significance
rs20765862083:64,083,080A/Tuncertain significance
rs14056692243:64,083,094C/Tuncertain significance
rs20765867273:64,083,106T/Cuncertain significance
rs269383:64,083,122A/Cbenign
rs622498823:64,083,138C/Tbenign
rs5584824443:64,083,159G/Auncertain significance
rs8860587923:64,083,167G/Auncertain significance
rs20765881823:64,083,219T/Cuncertain significance
rs8792976403:64,083,232A/Guncertain significance
rs8860587933:64,083,251T/Cuncertain significance
rs170698793:64,083,417A/Gbenign
rs9341933313:64,083,435T/Cuncertain significance
rs170698803:64,083,450G/Cbenign
rs9523451943:64,083,453G/Auncertain significance
rs7647840093:64,083,570C/Guncertain significance
rs7523345833:64,083,613G/Auncertain significance
rs1113622973:64,083,683G/Abenign
rs8860587943:64,083,732G/Tuncertain significance
rs9535056153:64,083,784C/Auncertain significance
rs269373:64,084,032G/Tbenign
rs7797198723:64,084,037C/Tuncertain significance
rs8860587963:64,084,145T/Auncertain significance
rs5284639503:64,084,167A/Tuncertain significance
rs1487246343:64,084,258C/Auncertain significance
rs1422637763:64,084,581G/Auncertain significance
rs3705693053:64,084,594C/Tlikely benign
rs5754145543:64,084,662C/Tuncertain significance
rs7481223393:64,084,730A/Glikely benign
rs20766106773:64,084,736G/Alikely benign
rs24710999333:64,084,738T/Cuncertain significance
rs7604033633:64,084,745T/Clikely benign
rs14741599133:64,084,751C/Tlikely benign
rs21069347073:64,084,769G/Alikely benign

Showing 100 of 533 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.