PPP1R18

protein phosphatase 1 regulatory subunit 18

Summary

Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]

Known Variants42 total

rsidPosition (GRCh37)AllelesClassClinVar
rs748020046:30,645,050C/Tbenign
rs7796826856:30,645,053C/Guncertain significance
rs1151694076:30,647,035G/Tlikely benign
rs5352897316:30,647,067T/Auncertain significance
rs25346399846:30,647,069G/Auncertain significance
rs25346409656:30,647,112C/Tuncertain significance
rs1181406806:30,647,372C/Tregulatory region variant
rs5554882156:30,652,202C/Tuncertain significance
rs3752016336:30,652,271C/Tuncertain significance
rs3680816756:30,652,283G/Auncertain significance
rs7514889486:30,652,363C/Tuncertain significance
rs7557672316:30,652,367G/Auncertain significance
rs7552971706:30,652,372T/Cuncertain significance
rs7726227076:30,652,396C/Auncertain significance
rs7470483686:30,652,400G/Auncertain significance
rs5682051836:30,652,495G/Cuncertain significance
rs2011448346:30,652,580C/Guncertain significance
rs12645777396:30,652,631G/Auncertain significance
rs3696886526:30,652,637C/Tlikely benign
rs7729700686:30,652,664C/Tuncertain significance
rs7578421656:30,652,699A/Cuncertain significance
rs22139446:30,652,729G/Abenign
rs1383945566:30,652,782G/Tsynonymous variant
rs7627305096:30,652,789A/Cuncertain significance
rs1886884536:30,652,946C/Tlikely benign
rs14772855406:30,652,987T/Cuncertain significance
rs2022364906:30,653,128A/Guncertain significance
rs3747736196:30,653,191C/Tuncertain significance
rs5331609096:30,653,192G/Auncertain significance
rs7652515206:30,653,239A/Cuncertain significance
rs5356510296:30,653,288G/Cuncertain significance
rs2003990696:30,653,377C/Tuncertain significance
rs2015324206:30,653,408G/Abenign
rs12212367316:30,653,486G/Auncertain significance
rs10369236866:30,653,512C/Tuncertain significance
rs17708787826:30,653,530C/Tuncertain significance
rs3695607276:30,653,538G/Cuncertain significance
rs7553377506:30,653,695G/Cuncertain significance
rs2002692066:30,653,707C/Tuncertain significance
rs3698136146:30,653,732C/Guncertain significance
rs7562251016:30,653,786T/Cuncertain significance
rs92621456:30,654,531G/Cregulatory region variant

Gene information from NCBI Gene. Variant classifications from ClinVar.