PIWIL1

piwi like RNA-mediated gene silencing 1

Summary

This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Known Variants61 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18703859112:130,822,274T/Cregulatory region variant—
rs2841652012:130,823,657G/Aintron variant—
rs14239787012:130,827,154A/G—benign
rs7447294312:130,827,206T/A—uncertain significance
rs20041475012:130,827,207C/G—uncertain significance
rs19980420712:130,827,222C/T—likely benign
rs7587655012:130,827,550T/G—likely benign
rs37070415112:130,827,577C/A—uncertain significance
rs77127062712:130,827,588G/T—likely benign
rs20144725312:130,830,355G/A—uncertain significance
rs53442025112:130,830,379T/C—uncertain significance
rs75224466012:130,830,386A/G—likely benign
rs14366531212:130,830,401C/T—likely benign
rs1106083612:130,830,906C/T—benign
rs14582128412:130,830,943C/T—likely benign
rs144830027812:130,830,981C/T—uncertain significance
rs74886164412:130,831,016A/G—uncertain significance
rs37534948612:130,831,022G/T—uncertain significance
rs36949133712:130,831,058G/A—uncertain significance
rs254783027812:130,831,508C/T—uncertain significance
rs93087831612:130,831,513A/G—uncertain significance
rs75541053612:130,831,535C/T—uncertain significance
rs75425303512:130,832,669G/T—uncertain significance
rs36906846112:130,832,682C/T—likely pathogenic
rs11755278312:130,833,777T/C—benign
rs74725162912:130,833,869C/T—uncertain significance
rs52975886412:130,833,923G/C—uncertain significance
rs475965912:130,837,288G/Aintron variant—
rs8023991512:130,837,475G/Aintron variant—
rs1084808712:130,839,165G/A—benign
rs3554007112:130,839,516C/T—likely benign
rs146383977012:130,840,098A/T—uncertain significance
rs98378553312:130,840,103A/G—uncertain significance
rs207334236712:130,840,133G/A—uncertain significance
rs254784111012:130,840,160C/A—uncertain significance
rs207337969112:130,841,508G/C—uncertain significance
rs110604112:130,841,561G/A—benign
rs77236839812:130,841,576A/C—uncertain significance
rs74701460512:130,841,586T/G—uncertain significance
rs110604212:130,841,638G/A—benign
rs13822890812:130,845,838A/G—benign
rs75542636912:130,845,846C/G—uncertain significance
rs57706611612:130,846,036A/G—likely benign
rs3537772612:130,846,069C/T—likely benign
rs14689716212:130,846,110C/T—uncertain significance
rs90331295212:130,847,337A/G—uncertain significance
rs224236312:130,847,389A/G—benign
rs76961963712:130,847,548C/T—uncertain significance
rs76888896312:130,847,555T/C—likely benign
rs18626105312:130,847,560G/A—uncertain significance
rs37225849712:130,847,588C/T—likely benign
rs14308210412:130,847,597C/T—benign
rs19960152512:130,847,670T/C—uncertain significance
rs77913860812:130,847,674T/C—uncertain significance
rs1106084512:130,852,174G/C——
rs15035903212:130,855,802C/T—likely benign
rs37493092312:130,855,858A/G—uncertain significance
rs76376968112:130,855,867C/T—uncertain significance
rs1077377112:130,856,316C/T3 prime UTR variant—
rs3453452712:130,864,798A/T——
rs1282707712:130,876,921A/G——

Gene information from NCBI Gene. Variant classifications from ClinVar.