SLC2A2

solute carrier family 2 member 2

Summary

This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

Known Variants250 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs958370410	3:170,714,161	T/C	—	uncertain significance
rs182503337	3:170,714,272	A/G	—	uncertain significance
rs112957674	3:170,714,343	G/A	—	benign
rs866750823	3:170,714,389	A/G	—	uncertain significance
rs573454591	3:170,714,432	T/C	—	likely benign
rs55679742	3:170,714,435	G/A	—	benign
rs55989805	3:170,714,470	A/T	—	benign
rs28579899	3:170,714,485	C/T	—	uncertain significance
rs1219326448	3:170,714,491	A/G	—	uncertain significance
rs886058171	3:170,714,528	A/G	—	uncertain significance
rs185726034	3:170,714,606	C/T	—	uncertain significance
rs1472003372	3:170,714,688	C/T	—	uncertain significance
rs971689457	3:170,714,732	A/C	—	uncertain significance
rs56204521	3:170,714,772	G/T	—	benign
rs77733690	3:170,714,783	G/A	—	benign
rs140738490	3:170,714,896	A/G	—	uncertain significance
rs886058172	3:170,714,966	A/G	—	uncertain significance
rs79770697	3:170,714,967	C/G	—	benign
rs1715118520	3:170,714,994	A/T	—	uncertain significance
rs886058173	3:170,715,124	T/A	—	uncertain significance
rs566222124	3:170,715,206	A/G	—	likely benign
rs75975646	3:170,715,216	A/G	—	benign
rs114710971	3:170,715,218	T/C	—	benign
rs7610064	3:170,715,336	T/A	—	benign
rs189555280	3:170,715,367	A/T	—	benign
rs910326054	3:170,715,438	A/C	—	uncertain significance
rs79424762	3:170,715,458	G/T	—	likely benign
rs528459194	3:170,715,522	C/T	—	uncertain significance
rs1232606277	3:170,715,526	C/T	—	uncertain significance
rs530625053	3:170,715,539	T/C	—	uncertain significance
rs993283861	3:170,715,609	T/A	—	conflicting classifications of pathogenicity
rs761913998	3:170,715,681	G/C	—	uncertain significance
rs758607933	3:170,715,697	C/T	—	uncertain significance
rs755934523	3:170,715,707	A/G	—	likely benign
rs147959014	3:170,715,711	C/T	—	benign
rs2108232309	3:170,715,718	A/G	—	uncertain significance
rs776597156	3:170,715,737	T/G	—	uncertain significance
rs5399	3:170,715,761	C/T	—	likely benign
rs200160167	3:170,715,777	G/A	—	uncertain significance
rs766600474	3:170,715,796	A/T	—	uncertain significance
rs1256419810	3:170,715,797	C/T	—	likely benign
rs777806589	3:170,715,804	T/C	—	uncertain significance
rs1187453971	3:170,715,827	T/C	—	likely benign
rs5398	3:170,715,830	G/A	—	conflicting classifications of pathogenicity
rs5397	3:170,715,835	G/C	—	conflicting classifications of pathogenicity
rs770197371	3:170,715,864	A/C	—	uncertain significance
rs140138702	3:170,715,865	G/C	—	benign
rs1319329059	3:170,715,875	A/T	—	pathogenic
rs1272353608	3:170,715,879	G/T	—	uncertain significance
rs1715177273	3:170,715,912	A/C	—	uncertain significance
rs781482707	3:170,715,975	T/C	—	likely benign
rs749710583	3:170,715,983	G/A	—	uncertain significance
rs201893964	3:170,715,994	G/A	—	likely benign
rs1715182989	3:170,715,997	A/T	—	pathogenic
rs776395971	3:170,716,007	A/G	—	uncertain significance
rs1553784995	3:170,716,025	C/T	—	affects
rs1197917542	3:170,716,027	A/G	—	likely benign
rs2108233104	3:170,716,058	G/A	—	uncertain significance
rs75144723	3:170,716,061	C/T	—	uncertain significance
rs2473882101	3:170,716,081	C/T	—	likely benign
rs191885528	3:170,716,087	C/A	—	likely benign
rs28928874	3:170,716,088	A/T	missense variant	pathogenic
rs2473882137	3:170,716,089	C/A	—	uncertain significance
rs121909745	3:170,716,097	C/T	stop gained	pathogenic
rs1309197020	3:170,716,102	G/A	—	likely benign
rs371657103	3:170,716,105	C/T	—	likely benign
rs121909744	3:170,716,106	G/A	missense variant	pathogenic
rs1553785033	3:170,716,110	C/T	—	likely pathogenic
rs775605288	3:170,716,135	A/G	—	uncertain significance
rs374702599	3:170,716,151	A/G	—	conflicting classifications of pathogenicity
rs1397211618	3:170,716,162	A/G	—	likely benign
rs2108233305	3:170,716,165	A/C	—	uncertain significance
rs766191732	3:170,716,177	G/T	—	uncertain significance
rs2473882381	3:170,716,184	T/C	—	uncertain significance
rs1294679246	3:170,716,853	C/A	—	pathogenic
rs760200790	3:170,716,855	A/C	—	uncertain significance
rs121909747	3:170,716,858	A/G	missense variant	pathogenic
rs140794946	3:170,716,860	C/T	—	conflicting classifications of pathogenicity
rs2108234205	3:170,716,863	A/G	—	likely benign
rs2473883781	3:170,716,866	T/A	—	likely benign
rs765728439	3:170,716,876	A/G	—	uncertain significance
rs750782646	3:170,716,882	A/T	—	uncertain significance
rs1381085405	3:170,716,894	A/G	—	uncertain significance
rs1715228241	3:170,716,906	A/G	—	uncertain significance
rs755000812	3:170,716,927	C/T	—	uncertain significance
rs121909742	3:170,716,931	G/A	stop gained	pathogenic
rs76362149	3:170,716,937	C/A	—	conflicting classifications of pathogenicity
rs1380054283	3:170,716,943	C/G	—	uncertain significance
rs5408	3:170,716,947	A/G	—	likely benign
rs372845210	3:170,716,949	G/A	—	uncertain significance
rs5407	3:170,716,964	A/G	—	benign
rs1487335649	3:170,716,965	T/C	—	uncertain significance
rs11923694	3:170,717,426	A/G	regulatory region variant	—
rs11920090	3:170,717,521	T/A	regulatory region variant	—
rs61169219	3:170,720,021	G/C	—	benign
rs1369930599	3:170,720,350	A/C	—	likely benign
rs1223297079	3:170,720,358	G/A	—	likely benign
rs756163471	3:170,720,364	C/T	—	likely pathogenic
rs776435170	3:170,720,394	C/T	—	uncertain significance
rs761337849	3:170,720,395	G/A	—	likely benign

Showing 100 of 250 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.