PIEZO1

piezo type mechanosensitive ion channel component 1 (Er blood group)

Summary

The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]

Known Variants1,595 total

rsidPosition (GRCh37)AllelesClassClinVar
rs147524026216:88,781,468C/A—uncertain significance
rs230604516:88,781,558G/A—benign
rs106124716:88,781,791C/A—benign
rs106123816:88,781,850C/T—benign
rs7326268316:88,782,018C/G—conflicting classifications of pathogenicity
rs57074419816:88,782,021T/C—conflicting classifications of pathogenicity
rs115752667916:88,782,024C/T—uncertain significance
rs77426861616:88,782,026C/G—uncertain significance
rs55955749616:88,782,029G/C—uncertain significance
rs214274463316:88,782,039T/G—uncertain significance
rs11542329316:88,782,049C/T—likely benign
rs6174508616:88,782,050G/A—conflicting classifications of pathogenicity
rs53076210116:88,782,055G/A—likely benign
rs75183499616:88,782,057G/T—uncertain significance
rs191194878416:88,782,072G/A—uncertain significance
rs3483086116:88,782,074T/C—conflicting classifications of pathogenicity
rs92243280916:88,782,078C/T—uncertain significance
rs106122816:88,782,079G/A—benign
rs3573635316:88,782,084A/G—likely benign
rs91401447016:88,782,098T/C—uncertain significance
rs20174647616:88,782,108G/A—conflicting classifications of pathogenicity
rs78027522616:88,782,110G/A—conflicting classifications of pathogenicity
rs74928823316:88,782,116C/T—conflicting classifications of pathogenicity
rs37496486016:88,782,117G/A—conflicting classifications of pathogenicity
rs118036693316:88,782,139G/C—likely benign
rs54760067916:88,782,145G/C—likely benign
rs77274850516:88,782,148G/C—uncertain significance
rs56592471716:88,782,152C/T—uncertain significance
rs14403577016:88,782,153G/A—conflicting classifications of pathogenicity
rs20024338416:88,782,159C/T—conflicting classifications of pathogenicity
rs75332086816:88,782,160G/A—likely benign
rs75092793916:88,782,164G/A—uncertain significance
rs75205244916:88,782,165G/A—uncertain significance
rs250781901516:88,782,181A/G—uncertain significance
rs57609683416:88,782,186A/G—uncertain significance
rs130253495916:88,782,188T/C—uncertain significance
rs53660914016:88,782,190C/A—likely benign
rs78032218816:88,782,192A/C—uncertain significance
rs57422777216:88,782,193G/A—benign
rs37139134916:88,782,198C/T—conflicting classifications of pathogenicity
rs119173518516:88,782,199G/C—uncertain significance
rs20212717616:88,782,205G/C—conflicting classifications of pathogenicity
rs191196694216:88,782,209C/G—uncertain significance
rs74738523816:88,782,210C/T—conflicting classifications of pathogenicity
rs11156429116:88,782,211G/A—likely benign
rs58777698816:88,782,212C/Tmissense variantpathogenic
rs250781931216:88,782,213G/T—uncertain significance
rs20101940416:88,782,214C/T—benign
rs53274873716:88,782,216C/T—conflicting classifications of pathogenicity
rs3554496816:88,782,217A/G—benign
rs53105840316:88,782,225C/T—uncertain significance
rs76237498416:88,782,226G/A—likely benign
rs136044911816:88,782,228T/C—uncertain significance
rs14643282316:88,782,246C/T—conflicting classifications of pathogenicity
rs14077801016:88,782,247G/A—likely benign
rs191197481516:88,782,261T/C—uncertain significance
rs15017263316:88,782,267G/A—likely benign
rs104804327216:88,782,331A/G—likely benign
rs135367830916:88,782,341C/T—uncertain significance
rs75524100516:88,782,343G/A—likely benign
rs77044861416:88,782,361G/A—likely benign
rs250782067216:88,782,365C/A—uncertain significance
rs86902560116:88,782,368G/Amissense variantpathogenic
rs191198955116:88,782,374C/G—uncertain significance
rs191199045916:88,782,386C/G—uncertain significance
rs99590061216:88,782,396C/T—uncertain significance
rs5854891316:88,782,417C/T—likely benign
rs37334998616:88,782,418G/T—likely benign
rs55320109116:88,782,422C/T—likely benign
rs57792276616:88,782,423G/C—conflicting classifications of pathogenicity
rs191199472616:88,782,426A/T—uncertain significance
rs99188945116:88,782,431T/G—uncertain significance
rs20029189416:88,782,438C/G—conflicting classifications of pathogenicity
rs94162887716:88,782,439G/A—likely benign
rs77386021716:88,782,453C/G—conflicting classifications of pathogenicity
rs54517126716:88,782,462C/T—conflicting classifications of pathogenicity
rs18910749916:88,782,463G/A—likely benign
rs20134706716:88,782,473G/A—conflicting classifications of pathogenicity
rs101819939516:88,782,474C/T—conflicting classifications of pathogenicity
rs20195008116:88,782,477C/T—conflicting classifications of pathogenicity
rs52844873216:88,782,483C/T—conflicting classifications of pathogenicity
rs37701126916:88,782,488C/T—conflicting classifications of pathogenicity
rs54064103616:88,782,489G/A—uncertain significance
rs99185806316:88,782,500C/T—uncertain significance
rs36931912316:88,782,504C/T—conflicting classifications of pathogenicity
rs7811407816:88,782,505G/A—likely benign
rs90888032216:88,782,506C/G—uncertain significance
rs77977225216:88,782,507C/T—conflicting classifications of pathogenicity
rs55126551716:88,782,508G/A—likely benign
rs191200533516:88,782,512T/C—uncertain significance
rs138850236016:88,782,516C/T—uncertain significance
rs135780802516:88,782,532G/T—conflicting classifications of pathogenicity
rs74757261716:88,782,537A/G—likely benign
rs191201276616:88,782,592A/G—likely benign
rs76177801216:88,782,594G/A—likely benign
rs191201375816:88,782,601C/T—uncertain significance
rs76746584916:88,782,603C/T—likely benign
rs75030295016:88,782,607G/A—uncertain significance
rs75358842016:88,782,633C/T—uncertain significance
rs145272271416:88,782,634T/C—likely benign

Showing 100 of 1,595 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.