SERPINC1

serpin family C member 1

Summary

The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]

Known Variants285 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2526541988	1:173,873,027	T/G	—	uncertain significance
rs1572084425	1:173,873,029	A/G	—	uncertain significance
rs2526542046	1:173,873,034	A/G	—	uncertain significance
rs121909564	1:173,873,040	G/A	missense variant	pathogenic
rs1572084448	1:173,873,046	G/T	—	uncertain significance
rs2526542281	1:173,873,056	C/G	—	pathogenic
rs2526542341	1:173,873,064	A/G	—	pathogenic
rs758603270	1:173,873,067	A/G	—	uncertain significance
rs5879	1:173,873,072	G/A	—	likely benign
rs376029223	1:173,873,080	G/A	—	uncertain significance
rs1263564864	1:173,873,084	T/C	—	likely benign
rs2102773041	1:173,873,091	A/T	—	uncertain significance
rs121909555	1:173,873,106	G/A	missense variant	pathogenic
rs1487411568	1:173,873,107	G/T	—	pathogenic
rs2526542694	1:173,873,109	C/A	—	uncertain significance
rs2526542705	1:173,873,110	T/C	—	uncertain significance
rs1301351856	1:173,873,111	G/C	—	pathogenic
rs121909546	1:173,873,116	C/T	missense variant	pathogenic
rs2526542785	1:173,873,120	G/T	—	likely pathogenic
rs1572084546	1:173,873,121	A/C	—	uncertain significance
rs2526542910	1:173,873,138	G/C	—	uncertain significance
rs773792958	1:173,873,144	C/T	—	uncertain significance
rs121909550	1:173,873,145	G/A	missense variant	pathogenic
rs1227097057	1:173,873,147	A/G	—	uncertain significance
rs121909549	1:173,873,148	C/G	missense variant	pathogenic
rs121909554	1:173,873,149	G/A	missense variant	pathogenic
rs121909566	1:173,873,151	C/T	missense variant	uncertain significance
rs1008874845	1:173,873,155	C/T	—	uncertain significance
rs772809607	1:173,873,157	A/G	—	uncertain significance
rs121909568	1:173,873,166	G/A	missense variant	uncertain significance
rs559277597	1:173,873,168	G/A	—	likely benign
rs121909548	1:173,873,176	C/G	missense variant	pathogenic
rs121909557	1:173,873,182	C/T	missense variant	pathogenic
rs1657379892	1:173,873,187	C/T	—	uncertain significance
rs2102773346	1:173,873,191	C/G	—	uncertain significance
rs2526543505	1:173,873,204	C/T	—	likely pathogenic
rs2102773374	1:173,873,205	T/C	—	pathogenic
rs2526543578	1:173,873,211	T/C	—	uncertain significance
rs1557900231	1:173,873,219	G/A	—	likely benign
rs677	1:173,876,561	C/G	—	benign
rs2526559330	1:173,876,577	G/A	—	likely benign
rs899914657	1:173,876,581	T/C	—	likely benign
rs2102778849	1:173,876,586	A/G	—	likely pathogenic
rs483352859	1:173,876,593	G/T	—	not provided
rs756459428	1:173,876,599	C/A	—	uncertain significance
rs920003404	1:173,876,600	C/G	—	uncertain significance
rs2526559490	1:173,876,602	T/C	—	uncertain significance
rs2102778910	1:173,876,616	G/C	—	likely pathogenic
rs201541724	1:173,876,634	C/T	—	uncertain significance
rs2526559702	1:173,876,635	G/A	—	pathogenic
rs2526559731	1:173,876,641	C/T	—	uncertain significance
rs1449772752	1:173,876,649	A/G	—	pathogenic
rs878854018	1:173,876,652	C/T	—	uncertain significance
rs375346550	1:173,876,657	A/G	—	likely benign
rs483352858	1:173,876,659	G/T	—	not provided
rs542881762	1:173,876,666	C/T	—	pathogenic
rs763052075	1:173,876,667	G/A	—	likely benign
rs2759328	1:173,876,705	C/T	—	benign
rs1799876	1:173,878,471	A/G	—	benign
rs2526569017	1:173,878,683	G/A	—	likely benign
rs1572088348	1:173,878,685	C/A	—	likely pathogenic
rs2526569034	1:173,878,691	T/C	—	uncertain significance
rs121909565	1:173,878,702	A/G	missense variant	uncertain significance
rs149006854	1:173,878,720	G/T	—	uncertain significance
rs2526569200	1:173,878,722	T/C	—	uncertain significance
rs1271197978	1:173,878,724	G/A	—	likely benign
rs2526569287	1:173,878,733	C/T	—	uncertain significance
rs2526569302	1:173,878,734	A/G	—	pathogenic
rs1254068236	1:173,878,737	T/C	—	uncertain significance
rs1657673747	1:173,878,744	G/C	—	uncertain significance
rs565091601	1:173,878,747	G/C	—	uncertain significance
rs767683540	1:173,878,765	C/T	—	uncertain significance
rs376752370	1:173,878,777	G/A	—	uncertain significance
rs1035744320	1:173,878,780	A/C	—	uncertain significance
rs758316459	1:173,878,782	C/T	—	uncertain significance
rs765761813	1:173,878,783	G/A	—	uncertain significance
rs2526569822	1:173,878,785	G/A	—	likely pathogenic
rs2102782517	1:173,878,786	G/A	—	uncertain significance
rs886045594	1:173,878,789	T/C	—	conflicting classifications of pathogenicity
rs960126155	1:173,878,792	G/A	—	uncertain significance
rs483352856	1:173,878,827	C/T	—	pathogenic
rs5878	1:173,878,832	T/C	—	benign
rs2526570241	1:173,878,834	G/A	—	pathogenic
rs749129128	1:173,878,835	C/G	—	likely benign
rs2526570260	1:173,878,836	A/G	—	uncertain significance
rs192187532	1:173,878,838	C/T	—	likely benign
rs2526570330	1:173,878,843	C/T	—	uncertain significance
rs567550044	1:173,878,848	G/A	—	uncertain significance
rs5877	1:173,878,862	T/C	—	benign
rs773399107	1:173,878,863	A/G	—	uncertain significance
rs200857896	1:173,878,868	G/C	—	uncertain significance
rs1210937889	1:173,878,882	C/T	—	uncertain significance
rs1460568494	1:173,878,890	G/A	—	pathogenic
rs1468108124	1:173,878,892	C/A	—	likely pathogenic
rs1657686098	1:173,878,897	T/A	—	uncertain significance
rs2526571100	1:173,878,918	C/T	—	uncertain significance
rs549991084	1:173,878,929	G/T	—	benign
rs150507232	1:173,878,933	A/G	—	likely benign
rs2102782923	1:173,878,949	G/A	—	likely benign
rs372820797	1:173,878,957	C/G	—	uncertain significance

Showing 100 of 285 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.