SERPINI1

serpin family I member 1

Summary

This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

Known Variants306 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11714980	3:167,452,991	T/C	—	benign
rs9853967	3:167,453,039	T/C	—	benign
rs886058166	3:167,453,607	G/A	—	uncertain significance
rs562830304	3:167,453,617	C/T	—	uncertain significance
rs1559989168	3:167,453,633	G/T	—	uncertain significance
rs886058167	3:167,453,659	C/T	—	uncertain significance
rs1492027	3:167,469,955	A/C	—	—
rs6797312	3:167,487,303	A/T	intron variant	—
rs1727409437	3:167,506,920	G/T	—	uncertain significance
rs2476220478	3:167,506,921	C/T	—	uncertain significance
rs1483914626	3:167,506,926	C/T	—	uncertain significance
rs1727409924	3:167,506,930	G/T	—	uncertain significance
rs752294814	3:167,506,934	C/A	—	likely benign
rs191197474	3:167,506,936	T/C	—	uncertain significance
rs33917740	3:167,506,937	C/G	missense variant	benign
rs1182632779	3:167,506,944	C/T	—	likely benign
rs2108556179	3:167,506,947	G/A	—	uncertain significance
rs2476220577	3:167,506,948	T/C	—	uncertain significance
rs1727411203	3:167,506,954	A/G	—	uncertain significance
rs61735307	3:167,506,956	A/G	—	benign
rs540962876	3:167,506,957	G/A	—	uncertain significance
rs1727411590	3:167,506,959	A/G	—	uncertain significance
rs2476220625	3:167,506,960	T/C	—	uncertain significance
rs1329426448	3:167,506,963	C/T	—	uncertain significance
rs138644986	3:167,506,964	T/A	—	likely benign
rs34582040	3:167,506,967	A/G	—	benign
rs577994777	3:167,506,969	G/C	—	uncertain significance
rs1727412841	3:167,506,970	G/A	—	likely benign
rs1344969234	3:167,506,971	G/A	—	uncertain significance
rs768750627	3:167,506,972	C/T	—	uncertain significance
rs776621818	3:167,506,974	A/G	—	uncertain significance
rs2476220722	3:167,506,976	T/C	—	likely benign
rs545345009	3:167,506,977	T/C	—	uncertain significance
rs563633471	3:167,506,985	G/C	—	uncertain significance
rs376206610	3:167,506,990	C/T	—	uncertain significance
rs372678518	3:167,506,992	A/G	—	conflicting classifications of pathogenicity
rs146948408	3:167,506,993	T/C	—	benign
rs2108556255	3:167,507,000	C/T	—	likely benign
rs1423056952	3:167,507,006	A/C	—	likely benign
rs1172732406	3:167,507,011	A/G	—	uncertain significance
rs2476220855	3:167,507,020	A/T	—	uncertain significance
rs61735306	3:167,507,022	C/T	—	uncertain significance
rs780236670	3:167,507,023	G/A	—	conflicting classifications of pathogenicity
rs1727416167	3:167,507,025	C/T	—	uncertain significance
rs1307825318	3:167,507,031	G/A	—	uncertain significance
rs1560008693	3:167,507,048	A/G	—	likely benign
rs769089864	3:167,507,049	A/G	—	uncertain significance
rs2108556293	3:167,507,053	T/C	—	uncertain significance
rs2476220929	3:167,507,056	T/C	—	uncertain significance
rs776746623	3:167,507,060	C/A	—	uncertain significance
rs121909051	3:167,507,061	T/C	missense variant	pathogenic
rs1450628576	3:167,507,063	T/C	—	likely benign
rs2108556315	3:167,507,068	T/C	—	uncertain significance
rs1577418477	3:167,507,070	A/C	—	pathogenic
rs2476221002	3:167,507,073	A/G	—	likely benign
rs2476221003	3:167,507,074	T/C	—	uncertain significance
rs769948709	3:167,507,077	C/T	—	uncertain significance
rs1050971384	3:167,507,082	G/T	—	uncertain significance
rs548008493	3:167,507,089	G/A	—	uncertain significance
rs1727418833	3:167,507,091	A/G	—	uncertain significance
rs2476221132	3:167,507,105	G/A	—	likely benign
rs889665899	3:167,507,108	C/T	—	likely benign
rs1288169432	3:167,507,114	A/G	—	likely benign
rs1577418542	3:167,507,116	C/A	—	uncertain significance
rs1577418551	3:167,507,119	C/A	—	uncertain significance
rs11547811	3:167,507,124	A/G	—	likely benign
rs369596299	3:167,507,133	C/G	—	uncertain significance
rs139808176	3:167,507,134	G/A	—	benign
rs1346309693	3:167,507,135	C/T	—	likely benign
rs1445299347	3:167,507,136	C/G	—	uncertain significance
rs757918199	3:167,507,137	A/G	—	uncertain significance
rs1727422336	3:167,507,142	A/G	—	uncertain significance
rs1365019307	3:167,507,144	G/A	—	uncertain significance
rs1727422704	3:167,507,152	A/G	—	uncertain significance
rs2108556439	3:167,507,156	C/G	—	uncertain significance
rs150681002	3:167,507,164	A/T	—	conflicting classifications of pathogenicity
rs1447537890	3:167,507,171	G/A	—	uncertain significance
rs1218012905	3:167,507,175	G/A	—	likely benign
rs1245102198	3:167,507,177	T/C	—	likely benign
rs77880879	3:167,507,179	A/G	—	benign
rs769937767	3:167,507,180	G/C	—	likely benign
rs9836907	3:167,507,962	T/A	—	benign
rs13067847	3:167,508,021	A/G	—	benign
rs62279575	3:167,508,038	G/C	—	benign
rs13090836	3:167,508,062	T/C	intron variant	benign
rs565445764	3:167,508,142	T/C	—	likely benign
rs200606523	3:167,508,150	C/G	—	benign
rs766009308	3:167,508,152	T/C	—	likely benign
rs751958524	3:167,508,153	C/T	—	likely benign
rs1456626777	3:167,508,159	G/C	—	uncertain significance
rs755311803	3:167,508,169	T/C	—	uncertain significance
rs1471438969	3:167,508,177	T/C	—	likely benign
rs781486255	3:167,508,190	C/T	—	conflicting classifications of pathogenicity
rs372528371	3:167,508,195	A/G	—	uncertain significance
rs376468580	3:167,508,196	T/C	—	uncertain significance
rs61750375	3:167,508,198	G/A	—	likely benign
rs1412749235	3:167,508,202	C/T	—	uncertain significance
rs61761891	3:167,508,206	T/C	—	likely benign
rs749315755	3:167,508,211	A/T	—	uncertain significance
rs771348316	3:167,508,212	G/A	—	likely benign

Showing 100 of 306 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.