PKD1L3

polycystin 1 like 3, transient receptor potential channel interacting

Summary

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]

Known Variants146 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1735840216:71,967,927C/T—benign
rs1333711816:71,975,519G/T——
rs7138478216:71,978,591A/Gintron variant—
rs135432431816:71,981,487C/T—likely benign
rs13902196916:71,983,320C/Tintron variant—
rs97135508016:71,983,792A/G—uncertain significance
rs37545611016:71,983,854A/C—uncertain significance
rs147490915116:71,983,902A/C—uncertain significance
rs36849026416:71,983,904A/C—uncertain significance
rs134971307716:71,984,024G/A—uncertain significance
rs76016459516:71,984,027C/T—uncertain significance
rs254409609016:71,984,064C/G—uncertain significance
rs11208147516:71,984,096G/C—uncertain significance
rs139878722316:71,984,101T/G—uncertain significance
rs11669670516:71,984,106G/A—benign
rs91069694816:71,984,110T/G—uncertain significance
rs76419912916:71,984,180A/G—likely benign
rs14976452316:71,985,478G/A—uncertain significance
rs254410443316:71,985,528C/A—uncertain significance
rs94886782216:71,985,546A/G—uncertain significance
rs148287086716:71,985,585C/G—uncertain significance
rs14469347116:71,985,633T/G—uncertain significance
rs56780822116:71,986,797A/G—uncertain significance
rs78083173516:71,986,804T/C—uncertain significance
rs7928520416:71,986,816G/A—uncertain significance
rs118921193716:71,986,912T/C—uncertain significance
rs5604120516:71,986,933G/C—benign
rs101462366616:71,988,048A/G—uncertain significance
rs203895901016:71,988,065G/T—uncertain significance
rs55344134616:71,988,067T/G—uncertain significance
rs127174237816:71,988,072A/G—uncertain significance
rs57666705616:71,988,079G/C—uncertain significance
rs992141216:71,988,106C/Tcoding sequence variant—
rs100783699216:71,988,129T/G—uncertain significance
rs20149190816:71,988,132C/T—conflicting classifications of pathogenicity
rs37610531416:71,988,133G/A—uncertain significance
rs77020204416:71,988,183A/G—uncertain significance
rs125419586516:71,988,198T/C—uncertain significance
rs14357817316:71,992,711C/Tintron variant—
rs478858416:71,993,386A/G——
rs3410168716:71,995,989A/Tintron variant—
rs11128319116:71,997,123T/C—uncertain significance
rs56098721516:71,997,132C/G—uncertain significance
rs19992567416:71,997,144C/T—uncertain significance
rs254416152016:71,997,158C/G—uncertain significance
rs37564605216:72,001,039G/A—uncertain significance
rs7671866816:72,001,049C/T—likely benign
rs99555819916:72,001,112G/A—uncertain significance
rs134144803716:72,001,186C/A—uncertain significance
rs97208602216:72,001,830C/T—uncertain significance
rs36930865016:72,001,837C/T—uncertain significance
rs37294201516:72,001,871G/T—conflicting classifications of pathogenicity
rs77141666216:72,003,781A/T—uncertain significance
rs75496703216:72,003,790T/A—uncertain significance
rs75290374816:72,003,802C/T—uncertain significance
rs76049923416:72,003,803G/C—uncertain significance
rs76858662516:72,003,808C/G—uncertain significance
rs98994323516:72,003,866G/A—uncertain significance
rs77521027716:72,003,880C/T—uncertain significance
rs55358655616:72,003,881G/A—uncertain significance
rs75966945416:72,003,910T/C—uncertain significance
rs36785437816:72,003,914C/T—uncertain significance
rs53060003616:72,003,935A/C—uncertain significance
rs37154124216:72,003,939G/T—uncertain significance
rs56083598716:72,003,973T/A—uncertain significance
rs97307380516:72,004,003A/C—uncertain significance
rs203979033516:72,007,230C/A—uncertain significance
rs37694515616:72,007,231C/T—uncertain significance
rs99810249716:72,007,240T/C—uncertain significance
rs18243999216:72,007,282C/T—uncertain significance
rs77854444616:72,007,284G/T—uncertain significance
rs77742286916:72,007,296G/C—uncertain significance
rs20086266216:72,007,305C/T—uncertain significance
rs20198006616:72,007,348C/T—uncertain significance
rs74706686016:72,007,372C/G—uncertain significance
rs53704010616:72,007,373G/T—uncertain significance
rs14262168016:72,007,382A/T—uncertain significance
rs120331414116:72,011,219G/A—uncertain significance
rs56806878816:72,011,251C/T—uncertain significance
rs117529213616:72,011,263G/A—uncertain significance
rs134180866316:72,011,308G/A—uncertain significance
rs92121894216:72,011,344C/T—uncertain significance
rs135254984016:72,012,168T/C—likely benign
rs103097082216:72,012,194C/T—likely benign
rs139208782816:72,012,218C/G—uncertain significance
rs7884722716:72,012,239C/G—likely benign
rs53074318816:72,012,251T/C—uncertain significance
rs36852581216:72,012,263T/C—uncertain significance
rs112253116:72,012,772C/Tintron variant—
rs254425121716:72,013,690C/T—uncertain significance
rs89678273616:72,013,737G/A—uncertain significance
rs76597842716:72,013,777T/C—uncertain significance
rs718527216:72,013,797G/Ccoding sequence variant—
rs719275016:72,014,782T/G——
rs805143116:72,015,251G/Cintron variant—
rs75545189816:72,015,959G/A—uncertain significance
rs75895445616:72,016,001G/C—uncertain significance
rs77837834316:72,016,007G/C—uncertain significance
rs14905804316:72,016,032G/A—uncertain significance
rs77523218416:72,016,052T/C—uncertain significance

Showing 100 of 146 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.