APOC2

apolipoprotein C2

Summary

This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]

Known Variants94 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs186448850	19:45,448,385	T/C	upstream gene variant	—
rs2288911	19:45,449,284	T/G	—	benign
rs886054484	19:45,449,301	C/T	—	uncertain significance
rs1970314890	19:45,449,308	G/C	—	uncertain significance
rs1433766273	19:45,449,328	G/A	—	uncertain significance
rs1457837418	19:45,449,340	A/G	—	uncertain significance
rs9304644	19:45,450,033	C/G	—	—
rs10419086	19:45,450,852	A/G	downstream gene variant	—
rs10420434	19:45,451,190	G/A	downstream gene variant	—
rs7256684	19:45,451,442	A/G	—	benign
rs12721060	19:45,451,534	T/G	—	likely benign
rs5120	19:45,451,620	T/A	—	benign
rs7257095	19:45,451,647	C/G	—	benign
rs12709887	19:45,451,648	C/G	—	likely benign
rs10422603	19:45,451,656	T/G	—	benign
rs5121	19:45,451,734	C/T	—	likely benign
rs120074112	19:45,451,736	A/G	missense variant	pathogenic
rs1970346812	19:45,451,739	G/C	—	uncertain significance
rs148343756	19:45,451,743	C/T	—	conflicting classifications of pathogenicity
rs202190413	19:45,451,745	C/T	—	pathogenic
rs750459826	19:45,451,746	G/A	—	uncertain significance
rs1392234344	19:45,451,768	T/C	—	likely benign
rs150887575	19:45,451,769	G/A	—	likely benign
rs777678252	19:45,451,771	C/G	—	likely benign
rs2513572319	19:45,451,774	C/T	—	likely benign
rs1209675341	19:45,451,777	G/C	—	likely benign
rs1970347563	19:45,451,787	T/G	—	uncertain significance
rs2513572335	19:45,451,790	G/T	—	uncertain significance
rs111628497	19:45,451,791	G/C	—	pathogenic
rs2122209583	19:45,451,810	G/A	—	likely benign
rs778728968	19:45,451,947	T/C	—	conflicting classifications of pathogenicity
rs750328283	19:45,451,951	C/G	—	likely benign
rs74500990	19:45,451,954	G/C	—	benign
rs746715271	19:45,451,962	C/T	—	likely benign
rs768288162	19:45,451,965	G/A	—	likely benign
rs994371401	19:45,451,970	C/T	—	uncertain significance
rs144145394	19:45,451,975	C/A	—	uncertain significance
rs2122209919	19:45,451,980	C/A	—	likely benign
rs1212588079	19:45,451,985	A/G	—	uncertain significance
rs781606926	19:45,451,986	A/G	—	likely benign
rs147242592	19:45,451,987	G/A	—	conflicting classifications of pathogenicity
rs200404502	19:45,452,003	C/T	—	uncertain significance
rs199658000	19:45,452,004	G/A	—	conflicting classifications of pathogenicity
rs1970350684	19:45,452,007	C/T	—	likely benign
rs120074114	19:45,452,024	A/C	missense variant	pathogenic
rs2513572741	19:45,452,038	A/G	—	likely benign
rs120074115	19:45,452,044	T/C	missense variant	pathogenic
rs535665191	19:45,452,064	C/T	—	likely benign
rs750370010	19:45,452,065	G/A	—	uncertain significance
rs758335932	19:45,452,067	C/T	—	likely benign
rs2122210095	19:45,452,076	G/A	—	likely benign
rs120074111	19:45,452,079	C/T	synonymous variant	likely benign
rs5122	19:45,452,080	G/A	missense variant	pathogenic
rs2513572806	19:45,452,081	A/T	—	uncertain significance
rs754423238	19:45,452,091	C/A	—	pathogenic
rs1970351768	19:45,452,095	C/T	—	uncertain significance
rs145771233	19:45,452,097	C/A	—	conflicting classifications of pathogenicity
rs770092327	19:45,452,098	G/C	—	uncertain significance
rs778175608	19:45,452,101	G/A	—	uncertain significance
rs148445956	19:45,452,107	G/A	—	uncertain significance
rs1475941193	19:45,452,117	G/C	—	uncertain significance
rs1033948087	19:45,452,127	G/A	—	likely benign
rs5123	19:45,452,161	G/A	—	likely benign
rs3745152	19:45,452,271	G/T	—	benign
rs4803776	19:45,452,335	C/T	—	benign
rs180809422	19:45,452,355	A/C	—	likely benign
rs778066288	19:45,452,400	T/C	—	likely benign
rs1389619673	19:45,452,401	G/C	—	likely benign
rs372783963	19:45,452,411	C/T	—	likely benign
rs5126	19:45,452,429	A/C	missense variant	pathogenic
rs2513573369	19:45,452,433	G/A	—	uncertain significance
rs746338249	19:45,452,438	G/A	—	uncertain significance
rs2513573383	19:45,452,448	G/C	—	likely benign
rs120074116	19:45,452,455	C/A	stop gained	pathogenic
rs199687805	19:45,452,457	C/G	—	uncertain significance
rs762824970	19:45,452,461	C/G	—	likely benign
rs925487251	19:45,452,462	A/C	—	uncertain significance
rs2513573410	19:45,452,470	T/G	—	likely benign
rs199563828	19:45,452,474	C/T	—	pathogenic
rs2513573427	19:45,452,482	T/C	—	likely benign
rs1463056903	19:45,452,485	T/C	—	likely benign
rs2513573448	19:45,452,496	G/C	—	uncertain significance
rs1001285509	19:45,452,500	G/A	—	likely benign
rs886054485	19:45,452,501	G/A	—	uncertain significance
rs752198029	19:45,452,515	C/T	—	likely benign
rs780350789	19:45,452,530	C/T	—	uncertain significance
rs1474754355	19:45,452,583	C/A	—	uncertain significance
rs7253690	19:45,452,596	C/T	—	likely benign
rs537917972	19:45,452,622	T/C	—	likely benign
rs886054486	19:45,452,680	T/C	—	uncertain significance
rs5127	19:45,452,694	G/T	—	—
rs886054487	19:45,452,709	G/A	—	uncertain significance
rs142212854	19:45,452,742	C/T	—	likely benign
rs1130742	19:45,452,812	C/T	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.