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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1733860	7:131,185,995	C/A	downstream gene variant	—
rs1584805418	7:131,189,062	A/C	—	likely benign
rs2485262188	7:131,189,064	A/C	—	likely benign
rs763831201	7:131,189,094	A/G	—	benign
rs751188807	7:131,189,095	T/C	—	uncertain significance
rs199939288	7:131,189,105	C/T	—	conflicting classifications of pathogenicity
rs138243217	7:131,189,107	T/C	—	conflicting classifications of pathogenicity
rs1797762072	7:131,189,110	G/A	—	uncertain significance
rs1166789394	7:131,189,112	C/T	—	likely benign
rs139425581	7:131,189,129	C/T	—	likely benign
rs1797762868	7:131,189,136	G/A	—	likely benign
rs774563497	7:131,189,140	T/C	—	conflicting classifications of pathogenicity
rs748347718	7:131,189,141	C/T	—	uncertain significance
rs34520552	7:131,189,142	C/A	—	benign
rs751278720	7:131,189,170	T/A	—	uncertain significance
rs373190298	7:131,189,171	T/C	—	uncertain significance
rs138022509	7:131,189,183	T/C	—	uncertain significance
rs529598859	7:131,189,187	A/C	—	likely benign
rs2116773619	7:131,189,190	A/G	—	likely benign
rs150526057	7:131,189,208	C/T	—	likely benign
rs748861424	7:131,189,210	G/T	—	uncertain significance
rs772512722	7:131,189,223	A/G	—	likely benign
rs747558898	7:131,189,241	T/C	—	likely benign
rs765526098	7:131,189,263	C/T	—	uncertain significance
rs375122245	7:131,189,264	G/A	—	uncertain significance
rs761466197	7:131,189,268	C/T	—	uncertain significance
rs200194414	7:131,189,287	C/T	—	benign
rs78887165	7:131,190,482	G/A	—	benign
rs7799613	7:131,190,554	G/C	—	benign
rs201551993	7:131,190,622	C/T	—	conflicting classifications of pathogenicity
rs1460358552	7:131,190,632	C/T	—	uncertain significance
rs760510403	7:131,190,645	G/T	—	likely benign
rs753800584	7:131,190,649	C/T	—	uncertain significance
rs758993736	7:131,190,650	G/A	—	uncertain significance
rs764811320	7:131,190,656	G/A	—	uncertain significance
rs1175023947	7:131,190,663	G/C	—	likely benign
rs138478935	7:131,190,675	C/T	—	likely benign
rs1278357127	7:131,190,680	C/T	—	uncertain significance
rs374483248	7:131,190,681	G/A	—	likely benign
rs786204840	7:131,190,685	A/C	—	uncertain significance
rs6651125	7:131,190,696	C/T	—	benign
rs769926911	7:131,190,707	C/T	—	uncertain significance
rs769926674	7:131,190,708	G/A	—	likely benign
rs869312170	7:131,190,725	G/T	—	uncertain significance
rs145330930	7:131,190,754	G/A	—	likely benign
rs139467549	7:131,190,759	C/T	—	likely benign
rs749354852	7:131,190,807	T/G	—	likely benign
rs761552461	7:131,191,008	G/A	—	likely benign
rs141440719	7:131,191,010	G/A	—	benign
rs371693121	7:131,191,012	C/T	—	likely benign
rs77580680	7:131,191,013	A/G	—	benign
rs147338873	7:131,191,031	A/C	—	likely benign
rs745637547	7:131,191,043	C/T	—	likely benign
rs769499844	7:131,191,046	C/T	—	likely benign
rs199529657	7:131,191,050	C/T	—	conflicting classifications of pathogenicity
rs145146486	7:131,191,054	C/T	—	likely benign
rs1201670472	7:131,191,063	C/T	—	uncertain significance
rs766662815	7:131,191,097	C/T	—	likely benign
rs770679315	7:131,191,365	C/T	—	uncertain significance
rs113941139	7:131,191,366	G/T	—	likely benign
rs765696227	7:131,191,367	G/A	—	uncertain significance
rs753226377	7:131,191,369	C/A	—	uncertain significance
rs869312171	7:131,191,373	C/T	—	uncertain significance
rs201724832	7:131,191,381	A/G	—	likely benign
rs201911803	7:131,191,394	C/T	—	conflicting classifications of pathogenicity
rs140483735	7:131,191,401	C/T	—	likely benign
rs748107948	7:131,191,402	G/T	—	pathogenic
rs377538821	7:131,191,417	C/T	—	likely benign
rs143652476	7:131,191,418	G/A	—	conflicting classifications of pathogenicity
rs373696065	7:131,191,442	C/T	—	uncertain significance
rs3212300	7:131,191,461	A/G	—	benign
rs761990963	7:131,191,472	G/A	—	uncertain significance
rs3212301	7:131,191,476	C/T	—	benign
rs1797810639	7:131,191,479	C/T	—	uncertain significance
rs2116779778	7:131,191,488	A/G	—	uncertain significance
rs1797810920	7:131,191,489	T/C	—	likely benign
rs199521757	7:131,191,501	C/T	—	likely benign
rs3212303	7:131,191,536	A/G	—	benign
rs11770771	7:131,191,609	A/G	—	benign
rs11767602	7:131,191,691	T/C	—	benign
rs3212299	7:131,193,695	C/A	—	benign
rs377608268	7:131,193,702	C/G	—	benign
rs2485273812	7:131,193,704	A/G	—	uncertain significance
rs1359973707	7:131,193,713	G/A	—	likely benign
rs1026546812	7:131,193,715	G/A	—	uncertain significance
rs3212298	7:131,193,739	T/C	—	benign
rs138160964	7:131,193,740	G/T	—	uncertain significance
rs200970679	7:131,193,758	T/C	—	likely benign
rs1797862038	7:131,193,794	G/A	—	likely benign
rs56123664	7:131,193,863	G/C	—	benign
rs56165616	7:131,193,885	C/T	—	benign
rs759005242	7:131,194,132	T/A	—	likely benign
rs3212297	7:131,194,136	A/G	—	benign
rs2116787042	7:131,194,139	A/C	—	likely benign
rs149080939	7:131,194,156	G/A	—	uncertain significance
rs2485275183	7:131,194,157	T/C	—	likely benign
rs758773640	7:131,194,158	G/A	—	likely benign
rs187786761	7:131,194,166	G/A	—	benign
rs869312172	7:131,194,170	C/T	—	uncertain significance
rs2485275253	7:131,194,180	T/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.