CEL

carboxyl ester lipase

Summary

The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]

Known Variants204 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs577403711	9:135,936,029	T/C	—	benign
rs541856133	9:135,936,325	C/T	—	likely benign
rs115751343	9:135,937,045	G/A	—	likely benign
rs529008953	9:135,937,184	G/A	—	likely benign
rs111904772	9:135,937,277	G/T	—	benign
rs2119054429	9:135,937,377	G/A	—	uncertain significance
rs201383133	9:135,937,396	C/T	—	likely benign
rs539606155	9:135,937,443	G/A	—	likely benign
rs558100781	9:135,937,450	G/T	—	likely benign
rs114748245	9:135,939,485	C/T	—	likely benign
rs73662424	9:135,939,670	A/C	—	benign
rs115873608	9:135,939,745	C/T	—	likely benign
rs779607772	9:135,939,797	G/A	—	conflicting classifications of pathogenicity
rs760813735	9:135,939,809	G/A	—	uncertain significance
rs199971842	9:135,939,823	G/C	—	likely benign
rs543591885	9:135,939,856	T/C	—	likely benign
rs1433124386	9:135,939,902	A/G	—	uncertain significance
rs768467824	9:135,939,927	A/T	—	uncertain significance
rs778382071	9:135,939,975	C/T	—	uncertain significance
rs8193019	9:135,939,976	A/G	—	likely benign
rs371426439	9:135,940,048	T/C	—	uncertain significance
rs2119059232	9:135,940,049	C/A	—	uncertain significance
rs746003254	9:135,940,074	A/G	—	uncertain significance
rs2490424151	9:135,940,086	A/C	—	uncertain significance
rs1200339761	9:135,940,146	C/T	—	conflicting classifications of pathogenicity
rs2490424302	9:135,940,149	G/A	—	uncertain significance
rs904614219	9:135,940,344	C/T	—	uncertain significance
rs140977366	9:135,940,379	C/G	—	likely benign
rs755075929	9:135,940,425	A/G	—	uncertain significance
rs199675811	9:135,940,433	G/A	—	uncertain significance
rs113056079	9:135,940,439	T/G	—	benign
rs201336247	9:135,940,444	G/A	—	conflicting classifications of pathogenicity
rs1269812562	9:135,940,468	G/A	—	conflicting classifications of pathogenicity
rs960508990	9:135,940,469	C/T	—	uncertain significance
rs377284693	9:135,940,486	G/A	—	conflicting classifications of pathogenicity
rs150358550	9:135,940,488	C/G	—	likely benign
rs200157916	9:135,940,503	C/T	—	likely benign
rs115568146	9:135,940,518	G/A	—	benign
rs778447237	9:135,940,525	G/A	—	uncertain significance
rs373668445	9:135,940,537	G/A	—	uncertain significance
rs571038906	9:135,940,557	C/G	—	uncertain significance
rs190538939	9:135,940,558	G/A	—	uncertain significance
rs371979820	9:135,940,581	C/T	—	likely benign
rs556574063	9:135,940,582	G/A	—	uncertain significance
rs746372103	9:135,940,612	G/A	—	uncertain significance
rs148017069	9:135,941,842	T/C	—	likely benign
rs141665160	9:135,941,932	G/A	—	likely benign
rs1388281999	9:135,941,950	T/A	—	uncertain significance
rs747153235	9:135,942,004	C/T	—	uncertain significance
rs371303105	9:135,942,221	G/A	—	likely benign
rs1554732495	9:135,942,242	C/T	—	uncertain significance
rs778611627	9:135,942,258	C/T	—	likely pathogenic
rs368907057	9:135,942,264	A/G	—	uncertain significance
rs372624029	9:135,942,272	G/T	—	uncertain significance
rs2490428937	9:135,942,273	A/G	—	uncertain significance
rs770547110	9:135,942,278	C/T	—	likely benign
rs2490429085	9:135,942,324	G/C	—	uncertain significance
rs200749469	9:135,942,339	G/A	—	likely benign
rs201657030	9:135,942,455	G/T	—	likely benign
rs2490429539	9:135,942,478	G/T	—	uncertain significance
rs375451730	9:135,942,510	C/T	—	likely benign
rs369868891	9:135,942,547	C/G	—	conflicting classifications of pathogenicity
rs773990119	9:135,942,557	C/T	—	uncertain significance
rs868527871	9:135,942,571	G/T	—	conflicting classifications of pathogenicity
rs201066180	9:135,942,575	C/T	—	uncertain significance
rs765533068	9:135,942,580	G/T	—	uncertain significance
rs377579138	9:135,942,590	A/C	—	uncertain significance
rs116059127	9:135,942,732	G/A	—	likely benign
rs192058004	9:135,942,816	A/G	—	likely benign
rs147546738	9:135,942,868	C/A	—	likely benign
rs150986867	9:135,944,001	A/G	—	benign
rs2490432110	9:135,944,120	C/A	—	uncertain significance
rs1830219581	9:135,944,127	A/C	—	uncertain significance
rs371275291	9:135,944,128	A/G	—	benign
rs376349732	9:135,944,135	C/T	—	likely benign
rs1456657894	9:135,944,136	G/A	—	uncertain significance
rs751119069	9:135,944,142	G/A	—	conflicting classifications of pathogenicity
rs368511384	9:135,944,161	T/C	—	uncertain significance
rs1291165567	9:135,944,202	A/G	—	uncertain significance
rs756798951	9:135,944,242	C/T	—	uncertain significance
rs8193021	9:135,944,286	A/G	—	benign
rs368102860	9:135,944,410	G/C	—	likely benign
rs1203705524	9:135,944,457	A/G	—	uncertain significance
rs200284601	9:135,944,497	C/T	—	benign
rs774313114	9:135,944,505	C/T	—	uncertain significance
rs201255412	9:135,944,524	C/T	—	benign
rs1226275795	9:135,944,525	G/A	—	uncertain significance
rs62576769	9:135,944,586	C/T	—	benign
rs753229766	9:135,944,591	G/A	—	benign
rs1356173832	9:135,944,604	T/G	—	uncertain significance
rs1830229236	9:135,944,643	C/T	—	uncertain significance
rs371324191	9:135,945,759	A/G	—	likely benign
rs138715663	9:135,945,800	C/T	—	benign
rs751702926	9:135,945,894	C/G	—	uncertain significance
rs371892814	9:135,945,896	C/T	—	likely benign
rs375516932	9:135,945,897	G/A	—	likely benign
rs369763536	9:135,945,912	G/C	—	uncertain significance
rs2480920	9:135,945,927	G/A	—	uncertain significance
rs397834568	9:135,945,928	C/G	—	uncertain significance
rs775977271	9:135,945,940	A/G	—	uncertain significance

Showing 100 of 204 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.