CPA1

carboxypeptidase A1

Summary

This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]

Known Variants655 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7789785	7:130,019,916	C/A	—	benign
rs2268381	7:130,020,065	C/T	—	benign
rs573718134	7:130,020,114	G/A	—	—
rs542840518	7:130,020,235	G/A	—	—
rs370268037	7:130,020,357	G/C	—	uncertain significance
rs558570962	7:130,020,361	C/G	—	uncertain significance
rs142127319	7:130,020,363	T/C	—	conflicting classifications of pathogenicity
rs1554411016	7:130,020,364	G/T	—	uncertain significance
rs541913287	7:130,020,365	C/T	—	uncertain significance
rs145988366	7:130,020,366	G/A	—	likely benign
rs2536002831	7:130,020,369	G/T	—	uncertain significance
rs782487656	7:130,020,370	G/A	—	likely benign
rs1584849867	7:130,020,371	T/A	—	uncertain significance
rs2536002843	7:130,020,373	G/A	—	likely benign
rs2536002847	7:130,020,375	T/C	—	uncertain significance
rs537519042	7:130,020,376	G/A	—	conflicting classifications of pathogenicity
rs2536002855	7:130,020,378	T/C	—	uncertain significance
rs2536002857	7:130,020,380	T/C	—	likely benign
rs2117498346	7:130,020,384	G/T	—	uncertain significance
rs2536002869	7:130,020,391	G/A	—	likely benign
rs373471930	7:130,020,392	T/C	—	likely benign
rs2117498366	7:130,020,394	G/T	—	uncertain significance
rs782329501	7:130,020,397	G/A	—	likely benign
rs782668240	7:130,020,398	G/A	—	uncertain significance
rs1378007993	7:130,020,401	G/C	—	conflicting classifications of pathogenicity
rs782301578	7:130,020,402	T/C	—	conflicting classifications of pathogenicity
rs1796390914	7:130,020,403	C/A	—	likely benign
rs1796390954	7:130,020,410	A/C	—	uncertain significance
rs2536002894	7:130,020,412	G/A	—	likely benign
rs147790644	7:130,020,413	G/A	—	uncertain significance
rs2536002897	7:130,020,415	G/C	—	uncertain significance
rs781953020	7:130,020,416	G/T	—	uncertain significance
rs2536002906	7:130,020,418	C/T	—	likely benign
rs2536002910	7:130,020,421	T/C	—	likely benign
rs2536002915	7:130,020,422	G/C	—	uncertain significance
rs2536002917	7:130,020,424	G/A	—	likely benign
rs1450647687	7:130,020,425	G/A	—	uncertain significance
rs1401613042	7:130,020,426	G/C	—	uncertain significance
rs577008275	7:130,020,429	A/G	—	conflicting classifications of pathogenicity
rs2117498427	7:130,020,430	G/A	—	uncertain significance
rs1362545496	7:130,020,440	G/A	—	likely benign
rs7790688	7:130,020,569	A/G	—	benign
rs75426882	7:130,020,600	C/T	—	likely benign
rs60012860	7:130,020,849	G/A	—	benign
rs782638392	7:130,020,928	A/T	—	conflicting classifications of pathogenicity
rs1554411100	7:130,020,936	C/T	—	uncertain significance
rs1796397131	7:130,020,942	T/C	—	likely benign
rs1584850133	7:130,020,944	A/T	—	uncertain significance
rs1277023753	7:130,020,948	G/C	—	likely benign
rs2536003648	7:130,020,949	C/G	—	uncertain significance
rs2536003652	7:130,020,950	T/G	—	uncertain significance
rs141209213	7:130,020,952	C/T	—	likely benign
rs547564304	7:130,020,953	G/A	—	uncertain significance
rs1796397406	7:130,020,957	C/A	—	likely benign
rs2117499085	7:130,020,959	C/G	—	uncertain significance
rs1796397483	7:130,020,965	C/G	—	uncertain significance
rs565451182	7:130,020,966	C/T	—	likely benign
rs375620015	7:130,020,967	G/A	—	uncertain significance
rs1554411107	7:130,020,968	A/G	—	likely benign
rs1331581809	7:130,020,969	T/C	—	likely benign
rs2117499127	7:130,020,972	G/A	—	likely benign
rs2536003714	7:130,020,974	C/G	—	uncertain significance
rs1796397696	7:130,020,975	C/T	—	likely benign
rs782393347	7:130,020,987	G/C	—	uncertain significance
rs1554411112	7:130,020,988	G/A	—	uncertain significance
rs781953465	7:130,020,989	T/C	—	uncertain significance
rs2536003749	7:130,020,993	G/A	—	likely benign
rs1796397880	7:130,020,994	G/A	—	uncertain significance
rs782104190	7:130,020,996	G/A	—	likely benign
rs2536003761	7:130,020,997	C/G	—	uncertain significance
rs1796397950	7:130,020,999	G/A	—	likely benign
rs782702163	7:130,021,003	G/A	—	conflicting classifications of pathogenicity
rs968811807	7:130,021,004	A/C	—	uncertain significance
rs1554411115	7:130,021,009	G/A	—	uncertain significance
rs201893877	7:130,021,010	A/T	—	uncertain significance
rs1554411117	7:130,021,012	C/T	—	uncertain significance
rs535901465	7:130,021,014	C/A	—	uncertain significance
rs2536003851	7:130,021,016	T/C	—	uncertain significance
rs965614266	7:130,021,017	G/A	—	likely benign
rs781860509	7:130,021,019	A/G	—	uncertain significance
rs1459226203	7:130,021,024	A/C	—	uncertain significance
rs2117499250	7:130,021,025	G/C	—	likely benign
rs2239604	7:130,021,331	T/C	—	benign
rs376743118	7:130,021,453	G/A	—	uncertain significance
rs1554411187	7:130,021,465	C/G	—	likely benign
rs532631461	7:130,021,467	C/T	—	conflicting classifications of pathogenicity
rs992726475	7:130,021,472	T/G	—	uncertain significance
rs267601284	7:130,021,474	G/A	—	likely benign
rs2536004944	7:130,021,479	C/T	—	likely benign
rs2536004947	7:130,021,480	T/G	—	uncertain significance
rs2536004950	7:130,021,481	G/C	—	uncertain significance
rs782384499	7:130,021,482	G/C	—	uncertain significance
rs782645631	7:130,021,483	C/T	—	conflicting classifications of pathogenicity
rs1303947345	7:130,021,484	G/A	—	conflicting classifications of pathogenicity
rs150333128	7:130,021,486	G/T	—	uncertain significance
rs1554411190	7:130,021,487	G/A	—	uncertain significance
rs1126899	7:130,021,488	C/G	—	likely benign
rs1584850552	7:130,021,496	A/T	—	uncertain significance
rs2536005076	7:130,021,499	C/G	—	uncertain significance
rs2536005079	7:130,021,501	G/A	—	uncertain significance

Showing 100 of 655 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.