GLIS3

GLIS family zinc finger 3

Summary

This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]

Known Variants538 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs182391240	9:3,824,255	A/G	—	uncertain significance
rs925921846	9:3,824,324	C/A	—	uncertain significance
rs949789457	9:3,824,338	T/C	—	uncertain significance
rs747590249	9:3,824,352	C/T	—	uncertain significance
rs552893696	9:3,824,496	C/G	—	uncertain significance
rs1428498369	9:3,824,508	C/T	—	uncertain significance
rs75958174	9:3,824,580	T/A	—	benign
rs952519785	9:3,824,631	T/C	—	uncertain significance
rs1362445118	9:3,824,661	A/G	—	uncertain significance
rs553410195	9:3,824,671	G/T	—	likely benign
rs746559491	9:3,824,696	C/T	—	uncertain significance
rs776859192	9:3,824,831	A/G	—	uncertain significance
rs115222174	9:3,824,863	C/T	—	benign
rs1817642452	9:3,824,878	A/G	—	uncertain significance
rs973943223	9:3,824,928	A/T	—	uncertain significance
rs544757217	9:3,824,929	A/T	—	uncertain significance
rs2297323	9:3,824,932	A/T	—	uncertain significance
rs868836548	9:3,824,933	A/T	—	uncertain significance
rs202199541	9:3,824,934	A/T	—	uncertain significance
rs57166843	9:3,824,935	A/T	—	uncertain significance
rs1455174	9:3,824,936	T/A	—	benign
rs886063939	9:3,824,942	C/T	—	uncertain significance
rs117876027	9:3,825,015	C/T	—	benign
rs886063940	9:3,825,041	T/G	—	uncertain significance
rs73640770	9:3,825,054	T/G	—	benign
rs548564187	9:3,825,083	G/A	—	likely benign
rs1588033009	9:3,825,135	G/A	—	uncertain significance
rs752355123	9:3,825,244	C/A	—	uncertain significance
rs35359206	9:3,825,260	C/G	—	benign
rs777209130	9:3,825,261	G/A	—	uncertain significance
rs886063941	9:3,825,280	G/A	—	uncertain significance
rs1817668227	9:3,825,304	A/T	—	uncertain significance
rs1421144796	9:3,825,310	C/G	—	uncertain significance
rs2297324	9:3,825,328	G/A	—	benign
rs886063942	9:3,825,345	A/C	—	uncertain significance
rs185773873	9:3,825,358	C/A	—	uncertain significance
rs3025	9:3,825,381	C/G	—	benign
rs192113877	9:3,825,382	G/C	—	likely benign
rs147347517	9:3,825,416	T/G	—	benign
rs184008619	9:3,825,422	G/C	—	likely benign
rs886063943	9:3,825,444	T/G	—	uncertain significance
rs77896717	9:3,825,459	G/A	—	benign
rs12351289	9:3,825,466	C/T	—	benign
rs187613528	9:3,825,485	C/T	—	likely benign
rs145629157	9:3,825,506	C/G	—	uncertain significance
rs565371946	9:3,825,508	G/C	—	uncertain significance
rs147724058	9:3,825,513	T/G	—	uncertain significance
rs1053280	9:3,825,540	T/C	—	benign
rs76838287	9:3,825,565	A/C	—	likely benign
rs374281554	9:3,825,575	A/C	—	uncertain significance
rs41278329	9:3,825,615	A/C	—	uncertain significance
rs886063944	9:3,825,773	A/T	—	uncertain significance
rs1053277	9:3,825,812	G/A	—	benign
rs1817696950	9:3,825,818	C/T	—	uncertain significance
rs578030304	9:3,825,846	A/G	—	uncertain significance
rs368160002	9:3,825,861	T/C	—	uncertain significance
rs569350667	9:3,825,868	T/G	—	likely benign
rs41314594	9:3,825,899	G/T	—	uncertain significance
rs3739619	9:3,825,946	G/A	—	benign
rs1817705262	9:3,825,952	C/T	—	uncertain significance
rs1047571321	9:3,826,069	T/C	—	uncertain significance
rs3739618	9:3,826,081	T/C	—	benign
rs374555254	9:3,826,087	C/T	—	uncertain significance
rs886063945	9:3,826,159	C/A	—	uncertain significance
rs151287182	9:3,826,220	G/T	—	uncertain significance
rs193108375	9:3,826,238	A/G	—	likely benign
rs922915467	9:3,826,330	C/A	—	uncertain significance
rs755453024	9:3,826,371	C/G	—	uncertain significance
rs10116901	9:3,826,440	C/T	—	benign
rs16919705	9:3,826,445	A/C	—	benign
rs140493802	9:3,826,507	C/T	—	uncertain significance
rs116077269	9:3,826,512	A/C	—	benign
rs886063946	9:3,826,528	T/C	—	uncertain significance
rs886063947	9:3,826,586	A/T	—	uncertain significance
rs1046305868	9:3,826,599	T/C	—	uncertain significance
rs183582256	9:3,826,636	C/A	—	likely benign
rs80030970	9:3,826,670	A/C	—	benign
rs188662841	9:3,826,706	A/C	—	uncertain significance
rs12376878	9:3,826,710	G/T	—	benign
rs1817748926	9:3,826,765	A/G	—	uncertain significance
rs916418957	9:3,826,785	T/C	—	uncertain significance
rs41278331	9:3,826,814	C/T	—	uncertain significance
rs775321147	9:3,826,856	C/A	—	uncertain significance
rs115457453	9:3,826,986	C/T	—	uncertain significance
rs1417359233	9:3,826,996	C/G	—	uncertain significance
rs114506692	9:3,827,040	A/C	—	benign
rs569524976	9:3,827,063	C/G	—	uncertain significance
rs970575821	9:3,827,064	G/A	—	uncertain significance
rs10973690	9:3,827,075	C/G	—	benign
rs371759528	9:3,827,106	C/T	—	likely benign
rs1331260	9:3,827,120	C/A	—	benign
rs1817766141	9:3,827,127	C/A	—	uncertain significance
rs922007897	9:3,827,152	G/A	—	uncertain significance
rs150411858	9:3,827,156	C/T	—	likely benign
rs574929091	9:3,827,270	A/G	—	uncertain significance
rs540961907	9:3,827,297	G/C	—	uncertain significance
rs756499534	9:3,827,303	G/C	—	uncertain significance
rs886063948	9:3,827,309	A/G	—	uncertain significance
rs1284782731	9:3,827,310	C/T	—	uncertain significance
rs1209054814	9:3,827,409	A/G	—	uncertain significance

Showing 100 of 538 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.