GRN

granulin precursor

Summary

Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]

Known Variants535 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88605300217:42,422,498G/A—uncertain significance
rs55573883717:42,422,507G/C—uncertain significance
rs88605300317:42,422,531G/C—uncertain significance
rs88605300417:42,422,537C/T—uncertain significance
rs95698385317:42,422,610A/G—uncertain significance
rs7678353217:42,422,638G/T—likely benign
rs90930711517:42,422,654T/G—benign
rs56333655017:42,422,665C/G—likely benign
rs53068655617:42,422,672T/C—benign
rs57230982417:42,422,688C/T—uncertain significance
rs123761997317:42,422,696G/C—likely benign
rs6375102017:42,422,705A/G—likely pathogenic
rs6375031317:42,422,707G/C—pathogenic
rs100103265217:42,422,715C/A—likely benign
rs56434154317:42,422,748G/T—benign
rs7519302617:42,422,938G/A—likely benign
rs287909617:42,423,556C/A——
rs479293817:42,424,599G/T——
rs7840383617:42,426,206C/G—benign
rs18749175817:42,426,451A/G—likely benign
rs74603787217:42,426,533A/G—pathogenic
rs6375100617:42,426,534T/Cmissense variantpathogenic
rs6375033117:42,426,535G/Amissense variantpathogenic
rs251005416117:42,426,537G/A—pathogenic
rs155561085517:42,426,538G/A—pathogenic
rs204834739417:42,426,539A/G—uncertain significance
rs37593980217:42,426,540C/G—uncertain significance
rs76865481917:42,426,550C/G—uncertain significance
rs155561086117:42,426,551T/G—uncertain significance
rs77436701017:42,426,554G/A—uncertain significance
rs131863263517:42,426,556G/A—likely benign
rs6375124317:42,426,558C/Tmissense variantuncertain significance
rs125635375117:42,426,562A/C—uncertain significance
rs145793033317:42,426,570G/C—uncertain significance
rs11143538517:42,426,574G/A—likely benign
rs204834800217:42,426,579C/T—uncertain significance
rs204834802917:42,426,582G/C—uncertain significance
rs100382309817:42,426,584A/G—pathogenic
rs19957231417:42,426,585C/T—uncertain significance
rs75316064117:42,426,586G/A—likely benign
rs6375072317:42,426,587C/T—benign
rs76466571017:42,426,588G/A—uncertain significance
rs142679064417:42,426,589G/T—conflicting classifications of pathogenicity
rs54261354317:42,426,590T/C—uncertain significance
rs74594709517:42,426,594C/T—uncertain significance
rs75642034117:42,426,601T/C—likely benign
rs214332548617:42,426,610C/A—pathogenic
rs156788540517:42,426,618C/T—uncertain significance
rs129405374217:42,426,619C/A—likely benign
rs251005427817:42,426,628G/C—likely benign
rs6375074217:42,426,631C/A—conflicting classifications of pathogenicity
rs74814715117:42,426,632C/G—uncertain significance
rs97783331517:42,426,633C/T—uncertain significance
rs6375107417:42,426,634C/T—conflicting classifications of pathogenicity
rs53345140417:42,426,635G/A—conflicting classifications of pathogenicity
rs119084817617:42,426,640A/T—likely benign
rs124800559117:42,426,642C/T—uncertain significance
rs116086891117:42,426,656T/G—uncertain significance
rs76606831117:42,426,660G/A—uncertain significance
rs214332590717:42,426,661T/C—likely benign
rs6374984417:42,426,671G/A—pathogenic
rs251005433617:42,426,672T/C—likely pathogenic
rs251005436017:42,426,683C/G—likely benign
rs54479373517:42,426,776T/C—likely benign
rs119881065817:42,426,781C/T—likely benign
rs75085888917:42,426,782C/G—likely benign
rs37111901117:42,426,791T/C—conflicting classifications of pathogenicity
rs214332658017:42,426,792A/G—likely pathogenic
rs123969038417:42,426,794G/A—uncertain significance
rs159836274617:42,426,801G/A—pathogenic
rs127791863817:42,426,802G/C—uncertain significance
rs75522410917:42,426,804C/T—uncertain significance
rs90665211417:42,426,812C/G—uncertain significance
rs6375048117:42,426,813T/C—not provided
rs214332673017:42,426,815A/G—uncertain significance
rs251005447017:42,426,823T/C—likely benign
rs54576276917:42,426,825T/G—uncertain significance
rs145699906017:42,426,831G/C—uncertain significance
rs251005449017:42,426,837G/A—uncertain significance
rs204835089917:42,426,841G/A—likely benign
rs156788558617:42,426,845G/A—uncertain significance
rs77087554217:42,426,853C/T—likely benign
rs77506016017:42,426,859T/C—likely benign
rs251005451717:42,426,861C/A—uncertain significance
rs76220141617:42,426,862C/T—likely benign
rs77238173217:42,426,863G/A—uncertain significance
rs251005452717:42,426,867A/G—uncertain significance
rs251005453217:42,426,870C/T—uncertain significance
rs14473647017:42,426,883C/T—likely benign
rs14853116117:42,426,884G/A—uncertain significance
rs102222874017:42,426,893A/T—uncertain significance
rs74855787617:42,426,895T/C—likely benign
rs75292816417:42,426,898C/T—likely benign
rs159836287617:42,426,905T/C—uncertain significance
rs14356084917:42,426,908C/G—conflicting classifications of pathogenicity
rs127507518917:42,426,909C/T—uncertain significance
rs104546407417:42,426,913C/G—uncertain significance
rs251005456317:42,426,918A/C—uncertain significance
rs6375116617:42,426,919G/A—pathogenic
rs156788572817:42,426,920G/A—likely pathogenic

Showing 100 of 535 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.