CPZ

carboxypeptidase Z

Summary

This gene encodes a member of the metallocarboxypeptidase family. This enzyme displays carboxypeptidase activity towards substrates with basic C-terminal residues. It is most active at neutral pH and is inhibited by active site-directed inhibitors of metallocarboxypeptidases. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Known Variants141 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs368876185	4:8,594,551	C/T	—	likely benign
rs370877808	4:8,594,571	C/A	—	uncertain significance
rs76756393	4:8,594,572	G/C	—	benign
rs34964084	4:8,594,577	C/T	—	benign
rs779266249	4:8,594,596	C/T	—	likely benign
rs780942665	4:8,594,603	G/A	—	uncertain significance
rs79736750	4:8,594,616	G/C	—	benign
rs1027133427	4:8,594,628	A/G	—	uncertain significance
rs3796735	4:8,599,432	C/T	intron variant	—
rs3796734	4:8,599,467	G/A	—	—
rs199962135	4:8,601,188	C/T	—	uncertain significance
rs372399181	4:8,601,198	C/T	—	uncertain significance
rs13121547	4:8,601,592	G/T	regulatory region variant	—
rs202061891	4:8,602,900	C/A	—	uncertain significance
rs1428422896	4:8,602,911	C/A	—	uncertain significance
rs145749554	4:8,602,930	C/T	—	uncertain significance
rs773719320	4:8,602,934	C/T	—	uncertain significance
rs150089485	4:8,602,959	C/T	—	benign
rs1418816872	4:8,603,016	C/G	—	uncertain significance
rs147337200	4:8,603,045	C/T	—	uncertain significance
rs375973206	4:8,603,072	G/A	—	uncertain significance
rs1207920661	4:8,603,077	C/A	—	uncertain significance
rs143245050	4:8,603,094	C/T	—	likely benign
rs115392829	4:8,603,105	G/A	—	benign
rs370509889	4:8,603,107	G/A	—	uncertain significance
rs35993494	4:8,603,117	A/T	—	benign
rs1337359873	4:8,603,140	A/G	—	uncertain significance
rs762109079	4:8,603,155	T/C	—	uncertain significance
rs186014353	4:8,603,190	C/T	—	benign
rs375633720	4:8,603,221	C/T	—	likely pathogenic
rs566237454	4:8,605,698	C/G	—	likely benign
rs554035587	4:8,605,720	G/A	—	uncertain significance
rs149059553	4:8,605,756	C/T	—	uncertain significance
rs376798665	4:8,605,757	G/A	—	uncertain significance
rs764081558	4:8,605,777	G/A	—	uncertain significance
rs757068985	4:8,605,786	G/A	—	uncertain significance
rs148218370	4:8,605,790	G/A	—	uncertain significance
rs6852001	4:8,605,818	T/C	—	benign
rs2109321000	4:8,605,819	G/A	—	uncertain significance
rs112582888	4:8,605,824	C/G	—	uncertain significance
rs115804488	4:8,605,845	C/T	—	benign
rs138247159	4:8,605,849	C/T	—	uncertain significance
rs1476418034	4:8,605,858	G/A	—	uncertain significance
rs28421391	4:8,605,860	C/A	—	benign
rs140673461	4:8,605,881	C/G	—	conflicting classifications of pathogenicity
rs751651131	4:8,607,724	G/A	—	uncertain significance
rs1207575548	4:8,607,752	G/T	—	uncertain significance
rs115075586	4:8,607,756	C/T	—	benign
rs202092274	4:8,607,757	G/A	—	uncertain significance
rs758061741	4:8,607,770	G/A	—	uncertain significance
rs139418095	4:8,607,794	A/G	—	benign
rs202018268	4:8,607,820	G/T	—	uncertain significance
rs140850654	4:8,607,829	C/T	—	uncertain significance
rs149715542	4:8,607,838	C/T	—	uncertain significance
rs760780373	4:8,607,847	A/T	—	uncertain significance
rs141203560	4:8,607,856	C/T	—	likely benign
rs753166608	4:8,607,857	G/A	—	uncertain significance
rs550379055	4:8,607,884	C/T	—	uncertain significance
rs1714985274	4:8,607,893	A/G	—	uncertain significance
rs201543610	4:8,607,909	C/G	—	benign
rs1187427564	4:8,607,913	G/A	—	uncertain significance
rs146935182	4:8,608,506	C/T	—	uncertain significance
rs761694641	4:8,608,513	T/C	—	uncertain significance
rs377478120	4:8,608,543	C/T	—	uncertain significance
rs531394795	4:8,608,619	G/T	—	uncertain significance
rs2302580	4:8,608,634	T/C	—	benign
rs1290246381	4:8,609,024	T/C	—	uncertain significance
rs761158013	4:8,609,031	A/G	—	likely benign
rs371681610	4:8,609,039	C/T	—	uncertain significance
rs1311423687	4:8,609,042	T/C	—	uncertain significance
rs141998267	4:8,609,066	G/C	—	uncertain significance
rs748182777	4:8,609,072	G/C	—	uncertain significance
rs776828782	4:8,609,090	C/G	—	uncertain significance
rs144181545	4:8,609,096	G/C	—	uncertain significance
rs1456583666	4:8,609,107	G/T	—	uncertain significance
rs147815913	4:8,609,123	A/G	—	likely benign
rs139569426	4:8,609,124	A/T	—	uncertain significance
rs1715129531	4:8,609,135	C/G	—	uncertain significance
rs371735226	4:8,609,139	C/A	—	uncertain significance
rs761554430	4:8,609,144	G/A	—	uncertain significance
rs62288581	4:8,609,848	G/A	regulatory region variant	—
rs147588134	4:8,613,762	G/T	—	benign
rs2302574	4:8,613,786	C/T	—	benign
rs771315930	4:8,613,803	T/G	—	uncertain significance
rs372498180	4:8,613,804	G/A	—	uncertain significance
rs145418825	4:8,613,812	C/T	—	uncertain significance
rs149208953	4:8,613,813	G/A	—	likely benign
rs778856137	4:8,613,821	G/A	—	uncertain significance
rs1027050472	4:8,613,830	G/T	—	uncertain significance
rs1182394393	4:8,613,845	G/C	—	uncertain significance
rs775707132	4:8,613,847	G/T	—	uncertain significance
rs2302573	4:8,613,867	G/A	—	benign
rs540505939	4:8,613,884	C/T	—	uncertain significance
rs28417411	4:8,613,895	G/T	—	benign
rs149313399	4:8,616,087	C/A	—	likely benign
rs144878756	4:8,616,160	C/A	—	uncertain significance
rs546238084	4:8,616,161	C/A	—	uncertain significance
rs9991535	4:8,616,224	C/T	—	benign
rs12650877	4:8,620,153	C/T	—	benign
rs139176210	4:8,620,163	G/A	—	uncertain significance

Showing 100 of 141 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.