STXBP1

syntaxin binding protein 1

Summary

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

Known Variants818 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886063463	9:130,374,526	C/T	—	uncertain significance
rs1294087142	9:130,374,633	G/T	—	likely benign
rs764134954	9:130,374,649	G/T	—	likely benign
rs767780730	9:130,374,661	G/C	—	benign
rs754349925	9:130,374,680	G/T	—	conflicting classifications of pathogenicity
rs2539639191	9:130,374,684	T/G	—	pathogenic
rs1838427784	9:130,374,687	C/T	—	uncertain significance
rs144094037	9:130,374,688	C/A	—	likely benign
rs575515332	9:130,374,690	C/T	—	uncertain significance
rs2539639296	9:130,374,692	A/G	—	uncertain significance
rs1322735925	9:130,374,695	G/T	—	uncertain significance
rs2132275559	9:130,374,697	C/G	—	likely benign
rs2539639339	9:130,374,699	T/C	—	likely pathogenic
rs2132275587	9:130,374,701	A/G	—	conflicting classifications of pathogenicity
rs1838429772	9:130,374,705	C/G	—	uncertain significance
rs2539639392	9:130,374,706	T/C	—	likely benign
rs1262952349	9:130,374,707	G/A	—	benign
rs1838430536	9:130,374,711	T/A	—	uncertain significance
rs372842480	9:130,374,712	C/T	—	likely benign
rs1588211811	9:130,374,715	A/G	—	likely benign
rs796053378	9:130,374,718	G/C	—	conflicting classifications of pathogenicity
rs2132275717	9:130,374,720	G/C	—	pathogenic
rs796053379	9:130,374,722	A/C	—	pathogenic
rs2539639559	9:130,374,727	G/T	—	likely benign
rs1256417800	9:130,374,731	C/A	—	likely benign
rs775194441	9:130,374,737	C/A	—	likely benign
rs1057521969	9:130,374,738	C/T	—	likely benign
rs2039205	9:130,375,643	C/G	—	benign
rs2132435278	9:130,413,582	C/T	—	uncertain significance
rs141778553	9:130,413,632	C/T	—	likely benign
rs2132436494	9:130,413,875	T/G	—	likely benign
rs2132436505	9:130,413,877	T/C	—	likely benign
rs138763389	9:130,413,879	C/T	—	benign
rs755497428	9:130,413,886	T/C	—	likely benign
rs2539771319	9:130,413,889	G/A	—	uncertain significance
rs2539771331	9:130,413,890	C/T	—	uncertain significance
rs2539771360	9:130,413,895	T/A	—	uncertain significance
rs2132436612	9:130,413,896	G/A	—	likely benign
rs2539771391	9:130,413,900	T/C	—	uncertain significance
rs1057519538	9:130,413,901	—	—	pathogenic
rs2539771437	9:130,413,904	G/A	—	likely benign
rs2132436701	9:130,413,914	A/G	—	likely benign
rs756787732	9:130,413,917	A/C	—	uncertain significance
rs1410513659	9:130,413,919	G/T	—	uncertain significance
rs1564346538	9:130,413,923	G/T	—	pathogenic
rs2539771553	9:130,413,926	T/G	—	pathogenic
rs1064793984	9:130,413,928	G/A	stop gained	pathogenic
rs796053350	9:130,413,932	G/A	—	pathogenic
rs1554775960	9:130,413,933	T/C	—	pathogenic
rs745510583	9:130,413,938	A/G	—	likely benign
rs2132436854	9:130,413,947	A/G	—	likely benign
rs779891014	9:130,413,950	T/C	—	likely benign
rs72769835	9:130,414,090	C/T	—	likely benign
rs114295222	9:130,415,825	T/C	—	likely benign
rs57153442	9:130,415,941	C/T	—	benign
rs760947759	9:130,415,974	G/A	—	likely benign
rs1057522112	9:130,415,977	G/A	—	likely benign
rs1363749374	9:130,415,983	T/C	—	likely benign
rs2539777890	9:130,415,985	T/C	—	likely benign
rs1840652995	9:130,415,991	C/T	—	uncertain significance
rs796053351	9:130,415,992	A/G	—	pathogenic
rs2539777929	9:130,415,993	G/A	—	pathogenic
rs1840653229	9:130,415,994	G/A	—	likely pathogenic
rs2539777941	9:130,415,998	T/C	—	likely pathogenic
rs2539777952	9:130,416,002	G/T	—	likely benign
rs1840653547	9:130,416,004	T/A	—	likely pathogenic
rs761031235	9:130,416,005	G/A	—	likely benign
rs2539777985	9:130,416,006	G/A	—	uncertain significance
rs1085307900	9:130,416,013	T/G	stop gained	pathogenic
rs538684549	9:130,416,019	T/C	—	uncertain significance
rs2132444493	9:130,416,023	G/T	—	uncertain significance
rs1840654963	9:130,416,025	T/A	—	uncertain significance
rs2132444527	9:130,416,028	T/G	—	pathogenic
rs766840783	9:130,416,029	G/A	—	likely benign
rs886041668	9:130,416,030	T/C	missense variant	pathogenic
rs796053380	9:130,416,030	—	—	pathogenic
rs1840655911	9:130,416,031	C/A	—	likely pathogenic
rs373660650	9:130,416,038	C/T	—	likely benign
rs1840656429	9:130,416,040	G/T	—	conflicting classifications of pathogenicity
rs1840656743	9:130,416,042	A/G	—	likely pathogenic
rs1462537561	9:130,416,050	A/C	—	conflicting classifications of pathogenicity
rs1244732832	9:130,416,051	G/C	—	conflicting classifications of pathogenicity
rs1373609182	9:130,416,053	C/T	—	likely benign
rs767019310	9:130,416,062	C/T	—	likely benign
rs749965674	9:130,416,063	G/T	—	pathogenic
rs2132444862	9:130,416,070	T/C	—	likely pathogenic
rs1554776228	9:130,416,073	C/G	—	pathogenic
rs1241441075	9:130,416,074	G/A	—	likely benign
rs587776641	9:130,416,076	G/A	—	pathogenic
rs2539778379	9:130,416,080	G/C	—	uncertain significance
rs2539778386	9:130,416,081	C/T	—	likely benign
rs2539778402	9:130,416,083	T/C	—	likely benign
rs1060504318	9:130,416,085	C/T	—	likely benign
rs1199862267	9:130,416,086	G/A	—	likely benign
rs755773785	9:130,416,089	C/T	—	likely benign
rs377086674	9:130,416,093	A/C	—	likely benign
rs182062372	9:130,416,110	G/C	—	benign
rs17849175	9:130,416,216	G/C	—	benign
rs7857988	9:130,420,452	T/A	—	likely benign
rs182862523	9:130,420,606	G/A	—	benign

Showing 100 of 818 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.