PKD1

polycystin 1, transient receptor potential channel interacting

Summary

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

Known Variants2,785 total

rsidPosition (GRCh37)AllelesClassClinVar
rs4551740416:2,138,227G/C—pathogenic
rs106049967616:2,138,235C/Gstop gainedpathogenic
rs4547270116:2,138,237C/Gmissense variantuncertain significance
rs13785421916:2,138,286G/Astop gainedpathogenic
rs4551741116:2,138,287G/Astop gainedpathogenic
rs4551741216:2,138,294C/Gmissense variantpathogenic
rs4550719916:2,138,295G/Tmissense variantpathogenic
rs4551741416:2,138,321C/Gmissense variantuncertain significance
rs105751810316:2,138,446G/A—uncertain significance
rs79605350716:2,138,449——pathogenic
rs87885411816:2,138,453——pathogenic
rs308763116:2,139,127A/Tregulatory region variantbenign
rs7756683416:2,139,713T/C—likely benign
rs76402852216:2,139,718G/C—likely benign
rs76706803016:2,139,720A/C—likely benign
rs254456918916:2,139,735C/T—uncertain significance
rs142912343616:2,139,741G/A—uncertain significance
rs254456953216:2,139,745G/A—uncertain significance
rs77799022416:2,139,752G/C—uncertain significance
rs78128266516:2,139,762C/T—uncertain significance
rs104172446316:2,139,769G/T—uncertain significance
rs53605034216:2,139,776G/C—conflicting classifications of pathogenicity
rs20217647316:2,139,778T/C—uncertain significance
rs134167291516:2,139,787T/C—uncertain significance
rs254457139216:2,139,796C/A—uncertain significance
rs209137869916:2,139,797C/T—likely benign
rs55771066516:2,139,804C/T—uncertain significance
rs37544330816:2,139,805G/T—likely benign
rs118830447616:2,139,813C/T—uncertain significance
rs11425139616:2,139,814G/A—likely benign
rs101423711016:2,139,815G/A—likely benign
rs121157268316:2,139,816G/A—uncertain significance
rs209138136116:2,139,821G/A—likely benign
rs20044688016:2,139,822C/T—conflicting classifications of pathogenicity
rs19956947816:2,139,824G/A—likely benign
rs136262707316:2,139,829G/A—uncertain significance
rs76738506016:2,139,837G/A—uncertain significance
rs77196593516:2,139,840C/T—likely benign
rs77303755116:2,139,841G/A—uncertain significance
rs209138575016:2,139,859C/T—uncertain significance
rs75589778416:2,139,862G/T—uncertain significance
rs36939744316:2,139,871C/T—likely benign
rs37385462816:2,139,872G/A—likely benign
rs37676977716:2,139,874C/T—uncertain significance
rs6203881116:2,139,875G/A—likely benign
rs77169525316:2,139,882C/T—uncertain significance
rs209138929516:2,139,892T/A—uncertain significance
rs209139033216:2,139,901G/A—pathogenic
rs76091752516:2,139,910G/A—uncertain significance
rs118116863516:2,139,916G/A—likely pathogenic
rs209139167416:2,139,919G/A—pathogenic
rs254457522316:2,139,920C/G—uncertain significance
rs156714370516:2,139,922C/A—likely pathogenic
rs75504873416:2,139,926C/T—likely benign
rs104567583116:2,139,928G/A—pathogenic
rs90677171216:2,139,929G/C—pathogenic
rs209139269716:2,139,931A/G—uncertain significance
rs11527273016:2,139,935G/A—likely benign
rs75341414816:2,139,941T/C—likely benign
rs123064106516:2,139,943T/G—uncertain significance
rs254457644516:2,139,948T/C—uncertain significance
rs75549645016:2,139,949G/A—pathogenic
rs14843320816:2,139,950G/A—likely benign
rs106479720516:2,139,957C/Gmissense variantpathogenic
rs19947609516:2,139,958G/Astop gainedpathogenic
rs254457699416:2,139,961C/G—uncertain significance
rs209139546416:2,139,967G/A—pathogenic
rs254457746816:2,139,975A/G—uncertain significance
rs14437096916:2,139,976G/A—likely benign
rs75978779416:2,139,980C/T—likely benign
rs209139704816:2,139,982C/A—pathogenic
rs14141258616:2,139,989G/A—likely benign
rs75151188616:2,139,992T/G—uncertain significance
rs75706831116:2,139,997G/A—uncertain significance
rs78102846016:2,139,998G/A—likely benign
rs56938042416:2,140,000G/A—uncertain significance
rs209140037716:2,140,008T/G—uncertain significance
rs720372916:2,140,010A/G—benign
rs254457845016:2,140,016A/T—likely pathogenic
rs254457918516:2,140,063G/A—conflicting classifications of pathogenicity
rs127872072416:2,140,067G/A—uncertain significance
rs14042173816:2,140,070G/A—likely benign
rs54785456316:2,140,071G/A—uncertain significance
rs77837873116:2,140,081G/A—uncertain significance
rs75597671216:2,140,114G/A—uncertain significance
rs74764857316:2,140,123G/A—uncertain significance
rs78174437516:2,140,125G/T—uncertain significance
rs254458044316:2,140,134G/A—uncertain significance
rs53638152216:2,140,148G/A—uncertain significance
rs19987892716:2,140,149C/T—uncertain significance
rs75921081116:2,140,154G/T—likely benign
rs78059823116:2,140,161G/A—uncertain significance
rs20103563616:2,140,167A/G—conflicting classifications of pathogenicity
rs209141351416:2,140,175A/C—conflicting classifications of pathogenicity
rs254458105116:2,140,176A/T—uncertain significance
rs209141368116:2,140,179C/T—uncertain significance
rs11553813016:2,140,180G/A—conflicting classifications of pathogenicity
rs215167877816:2,140,182A/C—uncertain significance
rs3622108016:2,140,191C/T—conflicting classifications of pathogenicity
rs155544433416:2,140,197T/G—pathogenic

Showing 100 of 2,785 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.