GCKR

glucokinase regulator

Summary

This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]

Known Variants175 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs704794	2:27,719,763	C/T	—	likely benign
rs147430554	2:27,719,780	C/T	—	likely benign
rs775406361	2:27,719,785	A/G	—	uncertain significance
rs148413763	2:27,719,787	C/T	—	uncertain significance
rs763613477	2:27,719,788	G/A	—	uncertain significance
rs367699312	2:27,719,813	G/A	—	likely benign
rs2466085040	2:27,719,821	G/A	—	uncertain significance
rs1326741003	2:27,719,822	C/T	—	uncertain significance
rs1245416906	2:27,719,829	G/A	—	uncertain significance
rs543459402	2:27,720,121	A/G	—	uncertain significance
rs146855458	2:27,720,123	G/A	—	uncertain significance
rs747654974	2:27,720,146	G/T	—	uncertain significance
rs1669437315	2:27,720,148	A/G	—	uncertain significance
rs760964948	2:27,720,174	G/A	—	uncertain significance
rs149205795	2:27,720,177	A/G	—	uncertain significance
rs375836361	2:27,720,201	C/T	stop gained	pathogenic
rs148289865	2:27,720,202	G/A	—	benign
rs777420998	2:27,720,222	G/A	—	uncertain significance
rs34775423	2:27,720,239	G/A	—	benign
rs768920972	2:27,720,282	G/T	—	likely benign
rs113580320	2:27,720,362	C/G	—	likely benign
rs8179205	2:27,720,385	C/T	—	benign
rs755995385	2:27,720,421	C/T	—	likely benign
rs554545928	2:27,720,425	A/G	—	likely benign
rs371436300	2:27,720,440	C/A	—	likely benign
rs771795298	2:27,720,441	G/A	—	uncertain significance
rs8179206	2:27,720,442	A/G	—	conflicting classifications of pathogenicity
rs116837855	2:27,720,456	A/G	—	likely benign
rs553943382	2:27,720,460	T/C	—	uncertain significance
rs747595070	2:27,720,483	C/A	—	uncertain significance
rs779768324	2:27,720,505	C/A	—	likely benign
rs372143124	2:27,721,116	C/T	—	likely benign
rs2466089620	2:27,721,126	C/T	—	uncertain significance
rs146175795	2:27,721,143	G/A	missense variant	pathogenic
rs745900416	2:27,721,152	G/A	—	uncertain significance
rs772220575	2:27,721,156	G/T	—	uncertain significance
rs370008301	2:27,721,171	G/A	—	uncertain significance
rs778664407	2:27,721,189	C/T	—	uncertain significance
rs143881585	2:27,721,190	G/A	—	likely benign
rs1669474454	2:27,721,206	T/A	—	likely benign
rs4270306	2:27,721,322	C/G	—	benign
rs2466091292	2:27,721,630	C/G	—	uncertain significance
rs150673460	2:27,721,631	C/T	—	uncertain significance
rs368953418	2:27,721,670	C/T	—	likely benign
rs372410789	2:27,721,683	T/C	—	likely benign
rs813592	2:27,721,971	T/C	—	benign
rs8179207	2:27,722,054	C/T	—	benign
rs189485742	2:27,722,272	C/T	—	likely benign
rs151082324	2:27,722,316	C/T	—	uncertain significance
rs373221901	2:27,722,335	T/C	—	likely benign
rs1260320	2:27,722,416	G/A	—	benign
rs1669564063	2:27,724,000	A/G	—	uncertain significance
rs779995020	2:27,724,011	G/T	—	uncertain significance
rs747674842	2:27,724,044	A/T	—	uncertain significance
rs181476157	2:27,724,062	G/A	—	uncertain significance
rs2466098789	2:27,724,081	C/A	—	uncertain significance
rs142644746	2:27,724,244	A/G	—	likely benign
rs8179210	2:27,724,535	C/G	intron variant	—
rs962767395	2:27,726,367	T/A	—	uncertain significance
rs2466105482	2:27,726,381	A/C	—	uncertain significance
rs201036537	2:27,726,392	T/C	—	uncertain significance
rs149847328	2:27,726,415	C/T	—	uncertain significance
rs375163166	2:27,726,416	G/A	—	likely benign
rs766471787	2:27,726,431	G/A	—	uncertain significance
rs147073127	2:27,726,437	A/C	—	likely benign
rs764135777	2:27,726,454	C/T	—	uncertain significance
rs947111849	2:27,726,473	A/T	—	uncertain significance
rs148025735	2:27,726,476	C/T	—	uncertain significance
rs749769068	2:27,728,576	C/T	—	likely benign
rs2466112266	2:27,728,584	G/A	—	uncertain significance
rs760501504	2:27,728,591	G/T	—	uncertain significance
rs8179212	2:27,728,600	G/A	—	uncertain significance
rs138410297	2:27,728,609	C/T	—	uncertain significance
rs369389181	2:27,728,617	A/G	—	likely benign
rs61734462	2:27,728,656	A/G	—	benign
rs2466112900	2:27,728,663	G/T	—	uncertain significance
rs747206533	2:27,728,666	C/G	—	uncertain significance
rs2293572	2:27,728,777	C/G	intron variant	benign
rs111736739	2:27,728,812	G/A	—	likely benign
rs114612460	2:27,729,193	C/T	—	likely benign
rs2466115024	2:27,729,352	C/T	—	uncertain significance
rs145352026	2:27,729,365	T/G	—	uncertain significance
rs370118462	2:27,729,367	C/T	—	uncertain significance
rs760427565	2:27,729,368	G/A	—	uncertain significance
rs1215398352	2:27,729,371	C/T	—	uncertain significance
rs201208427	2:27,729,382	G/A	—	uncertain significance
rs142453947	2:27,729,390	G/A	—	likely benign
rs34498189	2:27,729,397	T/G	—	likely benign
rs556770399	2:27,729,412	A/G	—	uncertain significance
rs771457730	2:27,729,432	G/A	—	likely benign
rs2293571	2:27,729,480	G/A	—	benign
rs563921371	2:27,729,674	G/A	—	uncertain significance
rs137875032	2:27,729,683	G/T	—	uncertain significance
rs757507939	2:27,729,687	G/A	—	uncertain significance
rs376157442	2:27,729,747	G/T	—	uncertain significance
rs200183362	2:27,729,756	G/C	—	uncertain significance
rs762011146	2:27,729,763	A/G	—	likely benign
rs369192771	2:27,729,766	C/T	—	likely benign
rs111254198	2:27,730,074	C/T	—	likely benign
rs201754753	2:27,730,107	C/T	—	uncertain significance

Showing 100 of 175 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.