SZT2

SZT2 subunit of KICSTOR complex

Summary

The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]

Known Variants2,742 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs116004196	1:43,855,490	C/T	—	benign
rs77597224	1:43,855,528	G/A	—	likely benign
rs839752	1:43,855,546	G/A	—	benign
rs839753	1:43,855,578	G/C	—	benign
rs376440375	1:43,855,636	T/C	—	uncertain significance
rs1301582193	1:43,855,644	C/T	—	uncertain significance
rs1484505234	1:43,855,646	T/G	—	uncertain significance
rs1648069463	1:43,855,647	C/T	—	uncertain significance
rs1570513799	1:43,855,649	G/A	—	uncertain significance
rs528945377	1:43,855,653	G/T	—	uncertain significance
rs759762015	1:43,855,656	C/G	—	uncertain significance
rs1648072248	1:43,855,657	G/T	—	likely benign
rs898608163	1:43,855,660	G/A	—	likely benign
rs1250171585	1:43,855,663	G/C	—	likely benign
rs1648078377	1:43,855,674	G/A	—	likely benign
rs1648080112	1:43,855,679	C/T	—	likely benign
rs1453732917	1:43,855,681	G/A	—	likely benign
rs1047529234	1:43,855,683	C/T	—	likely benign
rs548992913	1:43,855,684	G/A	—	likely benign
rs1557491102	1:43,855,685	C/T	—	likely benign
rs839754	1:43,855,910	C/T	—	benign
rs839759	1:43,863,460	A/G	intron variant	—
rs74069984	1:43,868,510	C/T	—	benign
rs2545765203	1:43,868,832	G/A	—	likely benign
rs2545765209	1:43,868,833	T/G	—	likely benign
rs1487665967	1:43,868,834	C/T	—	likely benign
rs372519036	1:43,868,843	C/T	—	conflicting classifications of pathogenicity
rs1449881766	1:43,868,848	G/T	—	uncertain significance
rs1487348555	1:43,868,866	G/A	—	uncertain significance
rs762621972	1:43,868,867	T/C	—	uncertain significance
rs374517880	1:43,868,871	C/T	—	likely benign
rs2153929596	1:43,868,874	G/C	—	likely benign
rs896591242	1:43,868,880	G/C	—	uncertain significance
rs397515489	1:43,868,893	C/T	stop gained	pathogenic
rs760528024	1:43,868,894	G/A	—	uncertain significance
rs140579462	1:43,868,898	C/T	—	likely benign
rs1322138668	1:43,868,900	C/A	—	uncertain significance
rs776627066	1:43,868,902	C/T	—	pathogenic
rs199859472	1:43,868,903	G/A	—	uncertain significance
rs1295828074	1:43,868,907	T/C	—	likely benign
rs368761999	1:43,868,911	C/T	—	uncertain significance
rs772662249	1:43,868,912	G/A	—	uncertain significance
rs762631966	1:43,868,914	C/T	—	likely benign
rs2545765428	1:43,868,919	T/G	—	likely benign
rs1553138299	1:43,868,925	C/G	—	pathogenic
rs765992944	1:43,868,928	C/T	—	likely benign
rs2153929606	1:43,868,936	T/A	—	uncertain significance
rs756496277	1:43,868,939	A/G	—	uncertain significance
rs2153929607	1:43,868,940	C/T	—	likely benign
rs1464596324	1:43,868,946	T/G	—	likely benign
rs553295081	1:43,868,947	G/A	—	uncertain significance
rs1649900068	1:43,868,952	G/A	—	likely benign
rs1363647233	1:43,868,954	C/G	—	uncertain significance
rs2153929611	1:43,868,955	C/T	—	likely benign
rs139147641	1:43,868,957	C/T	—	conflicting classifications of pathogenicity
rs2153929612	1:43,868,960	C/G	—	uncertain significance
rs1182393830	1:43,868,965	G/A	—	uncertain significance
rs745914076	1:43,868,967	G/A	—	likely benign
rs1649902998	1:43,868,974	G/A	—	likely pathogenic
rs758746941	1:43,868,986	C/T	—	likely benign
rs773931745	1:43,868,990	C/T	—	likely benign
rs1456349309	1:43,868,991	G/A	—	likely benign
rs710249	1:43,869,235	G/C	—	benign
rs765819632	1:43,869,258	A/G	—	likely benign
rs780217168	1:43,869,276	A/C	—	uncertain significance
rs747272915	1:43,869,277	G/A	—	likely benign
rs985279114	1:43,869,287	G/A	—	uncertain significance
rs2545766607	1:43,869,296	G/A	—	uncertain significance
rs1553138470	1:43,869,302	A/G	—	uncertain significance
rs2153929670	1:43,869,303	G/C	—	uncertain significance
rs1649949047	1:43,869,307	C/G	—	likely benign
rs769777334	1:43,869,310	G/T	—	likely benign
rs2153929673	1:43,869,312	C/G	—	uncertain significance
rs533004246	1:43,869,314	C/G	—	uncertain significance
rs2153929675	1:43,869,316	T/G	—	likely benign
rs773684718	1:43,869,321	G/A	—	pathogenic
rs1570565374	1:43,869,340	G/C	—	likely benign
rs765912738	1:43,869,356	C/T	—	uncertain significance
rs1274088465	1:43,869,363	T/C	—	uncertain significance
rs1649956153	1:43,869,364	A/G	—	likely benign
rs1649957093	1:43,869,370	C/T	—	likely benign
rs763499985	1:43,869,371	A/T	—	uncertain significance
rs2545766742	1:43,869,372	C/G	—	uncertain significance
rs766592403	1:43,869,374	C/T	—	uncertain significance
rs540224145	1:43,869,375	G/A	—	uncertain significance
rs1193615889	1:43,869,377	G/A	—	uncertain significance
rs781255087	1:43,869,382	C/T	—	likely benign
rs755904223	1:43,869,391	T/A	—	likely benign
rs1213957554	1:43,869,401	C/T	—	uncertain significance
rs975533309	1:43,869,402	G/A	—	uncertain significance
rs1189554367	1:43,869,410	A/T	—	uncertain significance
rs1390151138	1:43,869,414	A/T	—	uncertain significance
rs749244836	1:43,869,415	G/A	—	likely benign
rs201252901	1:43,869,452	G/T	—	likely benign
rs775002092	1:43,869,453	A/G	—	likely benign
rs374074178	1:43,869,458	A/C	—	likely benign
rs72881978	1:43,869,683	C/T	—	likely benign
rs140381110	1:43,869,703	A/C	—	likely benign
rs2545768499	1:43,870,034	T/C	—	likely benign
rs918728621	1:43,870,039	C/G	—	likely benign

Showing 100 of 2,742 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.