EPPK1

epiplakin 1

Summary

The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]

Known Variants347 total

rsidPosition (GRCh37)AllelesClassClinVar
rs613684558:144,940,627C/T—likely benign
rs117819428:144,940,779A/G—benign
rs7621202948:144,940,782C/A—uncertain significance
rs7819222728:144,940,788C/A—uncertain significance
rs7821148378:144,940,792G/C—likely benign
rs15546590868:144,940,798T/C—likely benign
rs1835953568:144,940,802G/A—uncertain significance
rs1883697368:144,940,804C/T—likely benign
rs3756397278:144,940,807G/T—uncertain significance
rs5667102818:144,940,811C/G—uncertain significance
rs3733311268:144,940,816C/T—likely benign
rs15546591078:144,940,821C/G—uncertain significance
rs2008285478:144,940,836T/C—uncertain significance
rs1429549698:144,940,863G/A—benign
rs3744722258:144,940,907A/C—uncertain significance
rs1163881808:144,940,920T/C—benign
rs1126798328:144,940,929G/C—likely benign
rs7824739948:144,940,935C/T—uncertain significance
rs1156881738:144,940,941A/G—benign
rs3761844158:144,940,944C/G—uncertain significance
rs7819000138:144,940,954C/G—likely benign
rs25390112458:144,940,955T/C—uncertain significance
rs2021613438:144,940,957C/T—benign
rs7818458818:144,940,958G/A—likely benign
rs1485270798:144,940,959C/T—likely benign
rs1141256808:144,940,963C/T—likely benign
rs3694043408:144,940,990T/G—uncertain significance
rs3714839548:144,940,997A/G—uncertain significance
rs7825981758:144,941,008C/T—likely benign
rs7820297548:144,941,073C/T—uncertain significance
rs1419003698:144,941,081C/T—benign
rs3738412648:144,941,110C/T—likely benign
rs5321577028:144,941,136C/T—uncertain significance
rs78399348:144,941,181G/C—benign
rs3689092988:144,941,182C/A—uncertain significance
rs3730751138:144,941,188C/T—likely benign
rs798606718:144,941,198T/G—benign
rs1441234268:144,941,229A/T—likely benign
rs3737336808:144,941,245C/T—likely benign
rs5549100338:144,941,251C/G—likely benign
rs3688636798:144,941,299A/G—likely benign
rs1896886188:144,941,325G/A—uncertain significance
rs780082278:144,941,359G/A—benign
rs21306226508:144,941,363T/C—uncertain significance
rs1399777108:144,941,370C/T—benign
rs7825108618:144,941,371G/A—likely benign
rs5753998448:144,941,383C/T—likely benign
rs5456392878:144,941,388C/T—uncertain significance
rs126814788:144,941,419C/T—benign
rs7826917648:144,941,429A/G—uncertain significance
rs3716362208:144,941,458C/T—likely benign
rs13585258578:144,941,463T/A—uncertain significance
rs1431336328:144,941,465G/A—uncertain significance
rs2014950068:144,941,529G/A—uncertain significance
rs5548498148:144,941,538C/G—uncertain significance
rs7822382128:144,941,543A/G—uncertain significance
rs7820201108:144,941,559C/T—uncertain significance
rs3693578888:144,941,611G/A—likely benign
rs1812154048:144,941,659G/A—likely benign
rs3742361038:144,941,713C/T—likely benign
rs2008346818:144,941,723G/A—benign
rs1434852508:144,941,832C/T—likely benign
rs1509699528:144,941,879G/A—likely benign
rs799610298:144,941,903G/A—benign
rs7826048188:144,941,924G/A—uncertain significance
rs7822300478:144,941,926G/C—likely benign
rs737155148:144,941,940G/A—benign
rs3702655268:144,941,991G/A—uncertain significance
rs5440538128:144,941,992C/T—benign
rs3724093758:144,942,025C/G—likely benign
rs7824912378:144,942,063C/T—uncertain significance
rs3684950198:144,942,066C/T—uncertain significance
rs1849795868:144,942,067G/A—likely benign
rs2020164558:144,942,096C/A—uncertain significance
rs733751198:144,942,097G/A—benign
rs1113418218:144,942,106G/A—likely benign
rs5306275158:144,942,116A/T—uncertain significance
rs724991378:144,942,123C/T—likely benign
rs7819335758:144,942,127G/T—uncertain significance
rs7818024358:144,942,189G/A—uncertain significance
rs5765301798:144,942,208C/T—likely benign
rs7819200138:144,942,235G/A—likely benign
rs3771760528:144,942,252C/T—uncertain significance
rs3750429788:144,942,265C/T—likely benign
rs7827973408:144,942,278T/G—uncertain significance
rs7818498338:144,942,286C/G—uncertain significance
rs1133978458:144,942,291T/C—benign
rs1915331238:144,942,300C/T—likely benign
rs2004101478:144,942,301G/A—likely benign
rs7823357858:144,942,302C/T—uncertain significance
rs1121367188:144,942,305C/T—benign
rs3730072578:144,942,306G/A—uncertain significance
rs1996042368:144,942,321C/T—benign
rs1467778698:144,942,328G/A—benign
rs560058038:144,942,342C/T—uncertain significance
rs1122355698:144,942,343G/A—likely benign
rs15546597998:144,942,347T/C—uncertain significance
rs2002938638:144,942,349G/A—likely benign
rs1139920878:144,942,354T/C—uncertain significance
rs1995981938:144,942,387G/A—likely benign

Showing 100 of 347 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.