PCK1

phosphoenolpyruvate carboxykinase 1

Summary

This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]

Known Variants224 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2071023	20:56,135,934	C/A	—	—
rs886056793	20:56,136,236	C/T	—	uncertain significance
rs886056794	20:56,136,246	C/T	—	uncertain significance
rs533125583	20:56,136,414	G/A	—	uncertain significance
rs2070139661	20:56,136,416	T/C	—	uncertain significance
rs780659077	20:56,136,465	G/A	—	uncertain significance
rs147120329	20:56,136,474	C/T	—	conflicting classifications of pathogenicity
rs28383584	20:56,136,479	G/A	—	benign
rs749547684	20:56,136,488	C/T	—	likely benign
rs202045983	20:56,136,489	G/A	—	uncertain significance
rs146652385	20:56,136,498	C/T	—	likely benign
rs548898026	20:56,136,502	C/T	—	likely benign
rs61749691	20:56,136,510	G/T	—	benign
rs140235265	20:56,136,531	A/G	—	uncertain significance
rs1042521	20:56,136,536	G/A	—	benign
rs778209680	20:56,136,551	G/A	—	likely benign
rs779302768	20:56,136,561	G/A	—	uncertain significance
rs200771350	20:56,136,569	C/T	—	conflicting classifications of pathogenicity
rs201181688	20:56,136,578	G/A	—	likely benign
rs144360449	20:56,136,598	A/G	—	uncertain significance
rs202197769	20:56,136,601	T/C	missense variant	pathogenic
rs45559338	20:56,136,608	C/T	—	conflicting classifications of pathogenicity
rs2070142702	20:56,136,618	G/A	—	uncertain significance
rs373529977	20:56,136,630	C/T	—	uncertain significance
rs28383585	20:56,136,631	G/A	—	conflicting classifications of pathogenicity
rs28383586	20:56,136,646	T/C	—	likely benign
rs200152114	20:56,136,660	A/G	—	conflicting classifications of pathogenicity
rs369101907	20:56,136,669	C/T	—	uncertain significance
rs147273759	20:56,136,670	G/T	—	uncertain significance
rs1405681647	20:56,136,675	A/C	—	uncertain significance
rs1221803831	20:56,136,686	C/T	—	likely benign
rs2515806246	20:56,136,701	G/T	—	likely benign
rs2236744	20:56,136,954	C/G	—	benign
rs2236745	20:56,136,993	T/C	—	benign
rs17847710	20:56,137,010	C/G	—	benign
rs8123020	20:56,137,061	T/C	—	benign
rs201223070	20:56,137,110	G/A	—	likely benign
rs139008325	20:56,137,130	G/T	—	uncertain significance
rs755169252	20:56,137,151	G/T	—	uncertain significance
rs144697339	20:56,137,166	C/T	—	likely benign
rs267606015	20:56,137,167	G/A	—	uncertain significance
rs149718395	20:56,137,177	C/T	—	uncertain significance
rs771945652	20:56,137,178	G/A	—	likely benign
rs6070157	20:56,137,184	T/C	—	benign
rs761353808	20:56,137,196	G/A	—	likely benign
rs1383834419	20:56,137,219	C/T	—	uncertain significance
rs1295975416	20:56,137,230	C/T	—	uncertain significance
rs369983343	20:56,137,241	C/T	—	likely benign
rs2070151842	20:56,137,245	C/T	—	uncertain significance
rs1040566	20:56,137,687	A/C	—	benign
rs377454991	20:56,137,737	C/T	—	likely benign
rs775923881	20:56,137,741	G/A	—	uncertain significance
rs150560473	20:56,137,755	G/A	—	uncertain significance
rs28359542	20:56,137,758	C/T	—	conflicting classifications of pathogenicity
rs143220447	20:56,137,759	C/A	—	conflicting classifications of pathogenicity
rs750424968	20:56,137,761	T/C	—	uncertain significance
rs543039825	20:56,137,771	C/T	—	likely benign
rs375595139	20:56,137,789	G/A	—	likely benign
rs771603187	20:56,137,797	C/T	—	uncertain significance
rs1062600	20:56,137,798	G/A	—	benign
rs1042523	20:56,137,807	A/G	synonymous variant	benign
rs149873355	20:56,137,811	A/T	—	uncertain significance
rs144907840	20:56,137,813	C/T	—	likely benign
rs764002893	20:56,137,819	C/T	—	conflicting classifications of pathogenicity
rs530695277	20:56,137,828	G/C	—	likely benign
rs1280567586	20:56,137,829	G/T	—	uncertain significance
rs1062601	20:56,137,834	A/G	—	benign
rs751497442	20:56,137,840	C/T	—	likely benign
rs368269624	20:56,137,841	G/A	—	uncertain significance
rs2146527614	20:56,137,849	C/T	—	likely benign
rs147708648	20:56,137,858	G/C	—	likely benign
rs199822253	20:56,137,866	C/T	—	uncertain significance
rs764055938	20:56,137,867	G/C	—	likely benign
rs761566552	20:56,137,869	G/A	—	uncertain significance
rs750079773	20:56,137,870	G/C	—	likely benign
rs767045677	20:56,137,882	C/T	—	likely benign
rs367998997	20:56,137,883	G/A	—	uncertain significance
rs781714230	20:56,137,885	C/T	—	likely benign
rs707555	20:56,137,895	C/G	—	benign
rs11552146	20:56,137,901	G/A	—	conflicting classifications of pathogenicity
rs2070161874	20:56,137,919	T/C	—	pathogenic
rs139125510	20:56,137,922	C/T	—	uncertain significance
rs2515808666	20:56,137,929	C/A	—	uncertain significance
rs374694652	20:56,137,931	G/A	—	uncertain significance
rs766993725	20:56,137,954	A/G	—	uncertain significance
rs756594188	20:56,137,962	G/A	—	likely benign
rs2070755	20:56,138,040	C/G	—	benign
rs75308972	20:56,138,068	G/A	—	likely benign
rs775000152	20:56,138,097	C/T	—	likely benign
rs765716997	20:56,138,114	C/T	—	uncertain significance
rs138176491	20:56,138,115	G/A	—	likely benign
rs377150721	20:56,138,123	C/T	—	uncertain significance
rs777897405	20:56,138,124	G/A	—	uncertain significance
rs17847716	20:56,138,130	C/T	—	benign
rs770807520	20:56,138,146	C/T	—	uncertain significance
rs745728357	20:56,138,152	G/A	—	uncertain significance
rs2070166590	20:56,138,154	G/A	—	uncertain significance
rs771750002	20:56,138,157	C/A	—	likely benign
rs2070166752	20:56,138,159	T/C	—	uncertain significance
rs28359544	20:56,138,178	C/T	—	benign

Showing 100 of 224 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.