KHK

ketohexokinase

Summary

This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants94 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2304682	2:27,307,769	G/C	upstream gene variant	—
rs6742004	2:27,309,659	A/C	—	benign
rs116028777	2:27,309,679	T/G	—	benign
rs116365550	2:27,309,684	C/A	—	benign
rs886055883	2:27,309,749	T/A	—	uncertain significance
rs114973335	2:27,309,804	C/T	—	benign
rs192615638	2:27,309,883	G/A	—	benign
rs886055884	2:27,309,988	G/A	—	uncertain significance
rs886055885	2:27,310,031	G/A	—	uncertain significance
rs763655731	2:27,310,113	T/G	—	uncertain significance
rs1669712582	2:27,310,142	G/A	—	uncertain significance
rs750201072	2:27,310,146	C/T	—	uncertain significance
rs200769127	2:27,310,175	C/T	—	uncertain significance
rs2465617315	2:27,310,215	A/T	—	uncertain significance
rs746381366	2:27,315,208	C/A	—	uncertain significance
rs143419158	2:27,315,211	A/G	—	uncertain significance
rs780406699	2:27,315,219	C/T	—	uncertain significance
rs104893643	2:27,315,225	G/A	missense variant	uncertain significance
rs104893644	2:27,315,234	G/A	missense variant	pathogenic
rs539559919	2:27,315,251	C/T	—	likely benign
rs2304681	2:27,315,252	G/A	—	benign
rs112920456	2:27,315,266	C/T	—	benign
rs973664792	2:27,315,270	G/A	—	uncertain significance
rs142663158	2:27,315,296	G/A	—	likely benign
rs368871098	2:27,317,334	C/T	—	uncertain significance
rs74537742	2:27,317,340	A/G	—	benign
rs201995559	2:27,317,364	C/T	—	uncertain significance
rs886055886	2:27,317,385	C/T	—	uncertain significance
rs780961189	2:27,317,415	G/A	—	conflicting classifications of pathogenicity
rs202153228	2:27,317,423	C/G	—	uncertain significance
rs141417422	2:27,317,457	C/T	—	uncertain significance
rs1482514899	2:27,317,468	A/G	—	uncertain significance
rs201650300	2:27,317,469	T/C	—	uncertain significance
rs761767044	2:27,319,635	T/C	—	uncertain significance
rs755158028	2:27,319,648	G/T	—	uncertain significance
rs750189672	2:27,320,366	A/G	—	likely benign
rs756258011	2:27,320,384	C/G	—	uncertain significance
rs776211460	2:27,320,416	G/A	—	uncertain significance
rs933339831	2:27,320,417	C/G	—	uncertain significance
rs150233686	2:27,320,423	A/C	—	uncertain significance
rs773003580	2:27,320,426	C/A	—	uncertain significance
rs886055887	2:27,320,452	C/T	—	uncertain significance
rs201707861	2:27,320,453	G/A	—	uncertain significance
rs148222785	2:27,320,460	C/T	—	uncertain significance
rs143669793	2:27,320,480	G/A	—	likely benign
rs886055888	2:27,320,510	G/A	—	uncertain significance
rs41288797	2:27,320,515	G/A	—	uncertain significance
rs10185736	2:27,321,224	T/C	downstream gene variant	—
rs886055889	2:27,322,142	G/C	—	uncertain significance
rs1670622215	2:27,322,157	G/A	—	uncertain significance
rs201453373	2:27,322,279	G/A	—	benign
rs781078287	2:27,322,317	A/T	—	uncertain significance
rs142428157	2:27,322,321	C/T	—	uncertain significance
rs745997707	2:27,322,322	G/A	—	uncertain significance
rs768902999	2:27,322,332	T/G	—	uncertain significance
rs755955022	2:27,322,382	G/A	—	uncertain significance
rs114353144	2:27,322,424	G/A	—	conflicting classifications of pathogenicity
rs7578864	2:27,322,450	G/C	—	benign
rs61735560	2:27,322,538	A/G	—	likely benign
rs575951862	2:27,322,539	G/A	—	uncertain significance
rs138164728	2:27,322,541	G/A	—	uncertain significance
rs761486852	2:27,322,547	G/A	—	uncertain significance
rs201037118	2:27,322,587	G/A	—	uncertain significance
rs116026105	2:27,322,600	C/A	—	benign
rs144476131	2:27,322,606	T/C	—	likely benign
rs759689060	2:27,322,629	C/T	—	uncertain significance
rs189674797	2:27,322,645	A/G	—	likely benign
rs745543858	2:27,322,646	T/C	—	uncertain significance
rs776688675	2:27,322,667	C/T	—	uncertain significance
rs747976594	2:27,322,670	C/T	—	uncertain significance
rs75067630	2:27,322,697	G/A	—	benign
rs886055892	2:27,322,777	G/A	—	uncertain significance
rs1558454561	2:27,322,794	G/A	—	uncertain significance
rs886055893	2:27,322,816	A/C	—	uncertain significance
rs751205514	2:27,322,818	A/G	—	uncertain significance
rs183949231	2:27,322,832	G/A	—	uncertain significance
rs766868467	2:27,322,877	T/G	—	uncertain significance
rs148558475	2:27,322,944	G/A	—	uncertain significance
rs187387157	2:27,323,087	G/A	—	uncertain significance
rs78939351	2:27,323,123	G/A	—	benign
rs60769101	2:27,323,158	G/C	—	benign
rs558714226	2:27,323,172	C/T	—	benign
rs7573066	2:27,323,198	T/C	—	benign
rs547856736	2:27,323,214	C/T	—	uncertain significance
rs192172107	2:27,323,241	G/A	—	likely benign
rs751242318	2:27,323,357	G/C	—	uncertain significance
rs1131375	2:27,323,385	C/T	—	benign
rs886055894	2:27,323,409	G/A	—	uncertain significance
rs113859516	2:27,323,424	G/A	—	benign
rs543665606	2:27,323,428	A/C	—	uncertain significance
rs1276594858	2:27,323,514	T/G	—	uncertain significance
rs1459521395	2:27,323,572	C/T	—	uncertain significance
rs114062151	2:27,323,626	G/A	—	benign
rs78413769	2:27,323,627	T/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.