PSMA4

proteasome 20S subunit alpha 4

Summary

This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]

Known Variants23 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3466413815:78,831,624T/C
rs3413896015:78,831,668A/T
rs53869722915:78,831,801G/T
rs3521259315:78,831,826G/Aupstream gene variant
rs1290168215:78,833,223A/T
rs5913382415:78,833,450C/T
rs254270566115:78,836,600T/Guncertain significance
rs7743423815:78,836,726T/G
rs1155177415:78,837,262A/Gbenign
rs78067520615:78,838,102G/Auncertain significance
rs119027618015:78,838,983T/Guncertain significance
rs57313573215:78,841,007A/G
rs77611582115:78,841,198T/Cuncertain significance
rs75332365615:78,841,215A/Cuncertain significance
rs117102740615:78,841,224G/Auncertain significance
rs197990715:78,842,239T/Cdownstream gene variant
rs197990615:78,842,289C/G
rs197990515:78,842,374A/T
rs1290796615:78,843,051C/Tdownstream gene variant
rs88039515:78,844,356A/C
rs90574015:78,844,386T/Cdownstream gene variant
rs716403015:78,844,661G/C
rs90573915:78,845,110A/Gdownstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.