GCK

glucokinase

Summary

This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]

Known Variants715 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs76374134	7:44,183,888	C/T	—	likely benign
rs886062344	7:44,183,891	T/G	—	conflicting classifications of pathogenicity
rs2908276	7:44,183,938	G/A	—	benign
rs185418856	7:44,183,971	G/A	—	conflicting classifications of pathogenicity
rs556996030	7:44,184,000	G/T	—	likely benign
rs886062345	7:44,184,012	T/C	—	conflicting classifications of pathogenicity
rs886062346	7:44,184,014	G/A	—	conflicting classifications of pathogenicity
rs555058443	7:44,184,057	C/A	—	conflicting classifications of pathogenicity
rs886062347	7:44,184,187	C/T	—	conflicting classifications of pathogenicity
rs141645300	7:44,184,225	G/A	—	likely benign
rs2908275	7:44,184,258	G/A	—	benign
rs146107173	7:44,184,379	C/T	—	likely benign
rs13306388	7:44,184,403	T/C	—	benign
rs527259972	7:44,184,438	A/C	—	likely benign
rs886062348	7:44,184,465	G/A	—	conflicting classifications of pathogenicity
rs557990162	7:44,184,643	G/T	—	likely benign
rs200698755	7:44,184,724	G/A	—	conflicting classifications of pathogenicity
rs2484491222	7:44,184,735	T/A	—	pathogenic
rs2484491257	7:44,184,737	A/G	—	likely pathogenic
rs2096270349	7:44,184,744	C/T	—	likely benign
rs193922285	7:44,184,747	C/A	missense variant	uncertain significance
rs193922284	7:44,184,760	—	—	pathogenic
rs104894014	7:44,184,766	G/A	missense variant	pathogenic
rs753795627	7:44,184,769	A/T	—	likely pathogenic
rs104894012	7:44,184,770	C/T	missense variant	pathogenic
rs1057524900	7:44,184,772	G/T	missense variant	pathogenic
rs761968548	7:44,184,774	C/A	—	likely benign
rs193922283	7:44,184,775	G/A	missense variant	pathogenic
rs2484491913	7:44,184,779	C/G	—	likely pathogenic
rs2484491998	7:44,184,784	G/A	—	uncertain significance
rs2484492011	7:44,184,785	C/A	—	pathogenic
rs193922282	7:44,184,788	C/T	missense variant	pathogenic
rs1057524901	7:44,184,789	—	—	pathogenic
rs1131691416	7:44,184,793	C/T	—	pathogenic
rs193922281	7:44,184,794	G/C	missense variant	pathogenic
rs2128818794	7:44,184,798	A/T	—	uncertain significance
rs193922280	7:44,184,801	—	—	pathogenic
rs2096270533	7:44,184,802	C/T	—	uncertain significance
rs1562711915	7:44,184,806	C/A	—	pathogenic
rs758737171	7:44,184,809	C/A	—	pathogenic
rs1286804191	7:44,184,811	G/C	—	pathogenic
rs2128818815	7:44,184,814	T/C	—	uncertain significance
rs2096270569	7:44,184,815	C/A	—	pathogenic
rs1554334455	7:44,184,816	G/A	—	likely benign
rs2484492701	7:44,184,820	A/T	—	uncertain significance
rs2128818820	7:44,184,821	A/C	—	conflicting classifications of pathogenicity
rs1185622190	7:44,184,823	G/A	—	likely pathogenic
rs2096270595	7:44,184,824	T/G	—	uncertain significance
rs193922278	7:44,184,826	A/T	missense variant	pathogenic
rs755498926	7:44,184,827	T/A	—	likely pathogenic
rs781723641	7:44,184,831	G/T	—	pathogenic
rs193922277	7:44,184,844	A/G	missense variant	pathogenic
rs193922276	7:44,184,845	G/A	—	conflicting classifications of pathogenicity
rs140672134	7:44,184,848	T/G	—	likely benign
rs1562712097	7:44,184,853	A/C	—	uncertain significance
rs2128818866	7:44,184,862	T/G	—	uncertain significance
rs2484493384	7:44,184,863	G/A	—	likely pathogenic
rs193922273	7:44,184,865	A/T	missense variant	pathogenic
rs1010302320	7:44,184,868	C/G	—	conflicting classifications of pathogenicity
rs1208845035	7:44,184,869	G/A	—	conflicting classifications of pathogenicity
rs1257648811	7:44,184,871	T/C	—	uncertain significance
rs2484493563	7:44,184,872	C/A	—	pathogenic
rs2484493584	7:44,184,873	C/A	—	likely pathogenic
rs2484493609	7:44,184,877	A/G	—	likely pathogenic
rs1554334478	7:44,184,878	A/G	—	uncertain significance
rs2484493651	7:44,184,880	C/A	—	pathogenic
rs2484493664	7:44,184,881	T/C	—	pathogenic
rs377159489	7:44,184,892	G/T	—	uncertain significance
rs765332886	7:44,184,905	C/T	—	likely benign
rs13306387	7:44,185,047	C/T	—	benign
rs768491249	7:44,185,084	G/A	—	conflicting classifications of pathogenicity
rs769645457	7:44,185,087	C/T	—	likely benign
rs2908274	7:44,185,088	G/A	—	benign
rs911506580	7:44,185,093	C/A	—	uncertain significance
rs1057524902	7:44,185,094	A/T	—	pathogenic
rs1394266353	7:44,185,095	C/G	—	pathogenic
rs766653778	7:44,185,101	G/A	—	likely benign
rs1583591303	7:44,185,102	T/C	—	pathogenic
rs2484495608	7:44,185,107	C/A	—	uncertain significance
rs193922272	7:44,185,109	T/C	missense variant	pathogenic
rs2484495664	7:44,185,110	G/C	—	pathogenic
rs1554334539	7:44,185,114	A/C	—	pathogenic
rs2484495767	7:44,185,115	C/T	—	pathogenic
rs755112715	7:44,185,116	G/C	—	likely benign
rs2484495820	7:44,185,117	G/A	—	likely pathogenic
rs1554334546	7:44,185,120	C/T	—	pathogenic
rs2128819136	7:44,185,121	C/G	—	pathogenic
rs1293307672	7:44,185,127	C/T	—	uncertain significance
rs2484495971	7:44,185,129	C/T	—	uncertain significance
rs2096271295	7:44,185,130	C/T	—	conflicting classifications of pathogenicity
rs2484496057	7:44,185,132	A/G	—	uncertain significance
rs2128819150	7:44,185,133	C/T	—	uncertain significance
rs2484496141	7:44,185,136	T/C	—	uncertain significance
rs193922271	7:44,185,142	G/C	missense variant	pathogenic
rs761204125	7:44,185,148	C/T	—	uncertain significance
rs757888672	7:44,185,154	C/A	—	pathogenic
rs193929375	7:44,185,159	C/T	missense variant	pathogenic
rs370464857	7:44,185,160	G/C	—	likely pathogenic
rs751179138	7:44,185,165	T/C	—	uncertain significance
rs2484496544	7:44,185,166	C/A	—	pathogenic

Showing 100 of 715 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.