PODXL

podocalyxin like

Summary

This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008]

Known Variants201 total

rsidPosition (GRCh37)AllelesClassClinVar
rs17338607:131,185,995C/Adownstream gene variant—
rs15848054187:131,189,062A/C—likely benign
rs24852621887:131,189,064A/C—likely benign
rs7638312017:131,189,094A/G—benign
rs7511888077:131,189,095T/C—uncertain significance
rs1999392887:131,189,105C/T—conflicting classifications of pathogenicity
rs1382432177:131,189,107T/C—conflicting classifications of pathogenicity
rs17977620727:131,189,110G/A—uncertain significance
rs11667893947:131,189,112C/T—likely benign
rs1394255817:131,189,129C/T—likely benign
rs17977628687:131,189,136G/A—likely benign
rs7745634977:131,189,140T/C—conflicting classifications of pathogenicity
rs7483477187:131,189,141C/T—uncertain significance
rs345205527:131,189,142C/A—benign
rs7512787207:131,189,170T/A—uncertain significance
rs3731902987:131,189,171T/C—uncertain significance
rs1380225097:131,189,183T/C—uncertain significance
rs5295988597:131,189,187A/C—likely benign
rs21167736197:131,189,190A/G—likely benign
rs1505260577:131,189,208C/T—likely benign
rs7488614247:131,189,210G/T—uncertain significance
rs7725127227:131,189,223A/G—likely benign
rs7475588987:131,189,241T/C—likely benign
rs7655260987:131,189,263C/T—uncertain significance
rs3751222457:131,189,264G/A—uncertain significance
rs7614661977:131,189,268C/T—uncertain significance
rs2001944147:131,189,287C/T—benign
rs788871657:131,190,482G/A—benign
rs77996137:131,190,554G/C—benign
rs2015519937:131,190,622C/T—conflicting classifications of pathogenicity
rs14603585527:131,190,632C/T—uncertain significance
rs7605104037:131,190,645G/T—likely benign
rs7538005847:131,190,649C/T—uncertain significance
rs7589937367:131,190,650G/A—uncertain significance
rs7648113207:131,190,656G/A—uncertain significance
rs11750239477:131,190,663G/C—likely benign
rs1384789357:131,190,675C/T—likely benign
rs12783571277:131,190,680C/T—uncertain significance
rs3744832487:131,190,681G/A—likely benign
rs7862048407:131,190,685A/C—uncertain significance
rs66511257:131,190,696C/T—benign
rs7699269117:131,190,707C/T—uncertain significance
rs7699266747:131,190,708G/A—likely benign
rs8693121707:131,190,725G/T—uncertain significance
rs1453309307:131,190,754G/A—likely benign
rs1394675497:131,190,759C/T—likely benign
rs7493548527:131,190,807T/G—likely benign
rs7615524617:131,191,008G/A—likely benign
rs1414407197:131,191,010G/A—benign
rs3716931217:131,191,012C/T—likely benign
rs775806807:131,191,013A/G—benign
rs1473388737:131,191,031A/C—likely benign
rs7456375477:131,191,043C/T—likely benign
rs7694998447:131,191,046C/T—likely benign
rs1995296577:131,191,050C/T—conflicting classifications of pathogenicity
rs1451464867:131,191,054C/T—likely benign
rs12016704727:131,191,063C/T—uncertain significance
rs7666628157:131,191,097C/T—likely benign
rs7706793157:131,191,365C/T—uncertain significance
rs1139411397:131,191,366G/T—likely benign
rs7656962277:131,191,367G/A—uncertain significance
rs7532263777:131,191,369C/A—uncertain significance
rs8693121717:131,191,373C/T—uncertain significance
rs2017248327:131,191,381A/G—likely benign
rs2019118037:131,191,394C/T—conflicting classifications of pathogenicity
rs1404837357:131,191,401C/T—likely benign
rs7481079487:131,191,402G/T—pathogenic
rs3775388217:131,191,417C/T—likely benign
rs1436524767:131,191,418G/A—conflicting classifications of pathogenicity
rs3736960657:131,191,442C/T—uncertain significance
rs32123007:131,191,461A/G—benign
rs7619909637:131,191,472G/A—uncertain significance
rs32123017:131,191,476C/T—benign
rs17978106397:131,191,479C/T—uncertain significance
rs21167797787:131,191,488A/G—uncertain significance
rs17978109207:131,191,489T/C—likely benign
rs1995217577:131,191,501C/T—likely benign
rs32123037:131,191,536A/G—benign
rs117707717:131,191,609A/G—benign
rs117676027:131,191,691T/C—benign
rs32122997:131,193,695C/A—benign
rs3776082687:131,193,702C/G—benign
rs24852738127:131,193,704A/G—uncertain significance
rs13599737077:131,193,713G/A—likely benign
rs10265468127:131,193,715G/A—uncertain significance
rs32122987:131,193,739T/C—benign
rs1381609647:131,193,740G/T—uncertain significance
rs2009706797:131,193,758T/C—likely benign
rs17978620387:131,193,794G/A—likely benign
rs561236647:131,193,863G/C—benign
rs561656167:131,193,885C/T—benign
rs7590052427:131,194,132T/A—likely benign
rs32122977:131,194,136A/G—benign
rs21167870427:131,194,139A/C—likely benign
rs1490809397:131,194,156G/A—uncertain significance
rs24852751837:131,194,157T/C—likely benign
rs7587736407:131,194,158G/A—likely benign
rs1877867617:131,194,166G/A—benign
rs8693121727:131,194,170C/T—uncertain significance
rs24852752537:131,194,180T/C—uncertain significance

Showing 100 of 201 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.