PROC

protein C, inactivator of coagulation factors Va and VIIIa

Summary

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]

Known Variants333 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2069901	2:128,174,843	T/C	upstream gene variant	—
rs1799808	2:128,175,862	C/T	regulatory region variant	benign
rs1799809	2:128,175,875	G/A	regulatory region variant	benign
rs1012749590	2:128,175,975	G/A	—	likely benign
rs1055939684	2:128,175,988	T/C	—	uncertain significance
rs2104934553	2:128,176,001	T/C	—	pathogenic
rs886054845	2:128,176,035	C/T	—	uncertain significance
rs2069936	2:128,176,036	G/A	—	conflicting classifications of pathogenicity
rs536613560	2:128,176,039	G/A	—	likely benign
rs1799810	2:128,176,040	A/T	regulatory region variant	benign
rs116169054	2:128,176,057	C/T	—	likely benign
rs912629007	2:128,176,058	G/A	—	uncertain significance
rs74392719	2:128,176,223	G/C	regulatory region variant	—
rs1158867	2:128,177,377	C/T	regulatory region variant	benign
rs371995306	2:128,177,461	G/A	regulatory region variant	Likely benign
rs41269833	2:128,177,493	C/T	—	conflicting classifications of pathogenicity
rs2468318751	2:128,177,524	G/A	—	pathogenic
rs2468318825	2:128,177,538	T/C	—	uncertain significance
rs148490199	2:128,177,548	C/T	—	conflicting classifications of pathogenicity
rs368493458	2:128,177,549	G/A	—	uncertain significance
rs748548752	2:128,177,557	C/T	—	likely benign
rs758576042	2:128,177,559	G/A	—	pathogenic
rs770171684	2:128,177,569	C/T	—	likely benign
rs146793243	2:128,177,570	G/A	—	uncertain significance
rs1282935697	2:128,177,578	A/G	—	likely benign
rs144300387	2:128,177,584	T/C	—	likely benign
rs2468319152	2:128,177,587	T/C	—	uncertain significance
rs768681450	2:128,177,595	C/G	—	likely benign
rs1202314840	2:128,177,598	C/T	—	likely benign
rs1687993255	2:128,177,600	C/T	—	uncertain significance
rs200660332	2:128,177,601	C/G	—	conflicting classifications of pathogenicity
rs2069912	2:128,178,191	T/C	downstream gene variant	—
rs138057813	2:128,178,842	C/T	—	conflicting classifications of pathogenicity
rs199825649	2:128,178,843	C/G	—	likely benign
rs754243426	2:128,178,864	G/A	—	likely pathogenic
rs552714462	2:128,178,878	C/T	—	likely benign
rs779710709	2:128,178,879	G/A	—	uncertain significance
rs2468324840	2:128,178,880	A/T	—	uncertain significance
rs2468324848	2:128,178,882	C/T	—	pathogenic
rs769900251	2:128,178,900	C/T	missense variant	uncertain significance
rs773107370	2:128,178,901	G/A	—	uncertain significance
rs199514227	2:128,178,906	C/T	—	uncertain significance
rs774572099	2:128,178,912	C/T	missense variant	pathogenic
rs369504169	2:128,178,913	G/A	missense variant	pathogenic
rs767626189	2:128,178,915	G/A	—	conflicting classifications of pathogenicity
rs775598456	2:128,178,920	C/T	—	likely benign
rs2104944542	2:128,178,927	C/T	—	likely benign
rs2468325161	2:128,178,932	G/A	—	likely benign
rs764546127	2:128,178,939	C/T	—	pathogenic
rs1558712064	2:128,178,944	C/G	—	uncertain significance
rs376049280	2:128,178,948	A/T	—	uncertain significance
rs2468325276	2:128,178,952	T/C	—	uncertain significance
rs757583846	2:128,178,957	C/T	missense variant	pathogenic
rs121918148	2:128,178,973	A/C	missense variant	pathogenic
rs1276731365	2:128,178,974	G/A	—	likely benign
rs201463891	2:128,178,986	C/T	—	likely benign
rs1448630830	2:128,178,987	G/A	—	likely pathogenic
rs2104944789	2:128,178,993	G/A	—	uncertain significance
rs984698204	2:128,178,994	C/T	—	uncertain significance
rs199469481	2:128,178,996	A/G	missense variant	uncertain significance
rs121918149	2:128,179,014	G/A	missense variant	pathogenic
rs2468325686	2:128,179,024	C/G	—	uncertain significance
rs199469482	2:128,179,030	G/A	splice region variant	—
rs528055589	2:128,179,040	G/A	—	likely benign
rs2069918	2:128,179,326	A/G	—	benign
rs2069919	2:128,179,553	G/A	downstream gene variant	—
rs973760	2:128,180,221	A/G	—	benign
rs1573442055	2:128,180,491	A/G	—	likely pathogenic
rs1553423955	2:128,180,492	G/A	—	likely pathogenic
rs1573442078	2:128,180,500	T/C	—	not provided
rs1688199561	2:128,180,505	T/C	—	uncertain significance
rs1272440643	2:128,180,518	G/A	—	likely pathogenic
rs770241629	2:128,180,523	T/G	—	uncertain significance
rs763358321	2:128,180,535	C/T	—	likely benign
rs2104952137	2:128,180,582	T/G	—	uncertain significance
rs1573442568	2:128,180,591	A/T	—	likely benign
rs370917112	2:128,180,596	G/T	—	benign
rs373494631	2:128,180,606	G/A	—	likely benign
rs1688213562	2:128,180,629	C/T	—	uncertain significance
rs774908523	2:128,180,633	C/T	—	uncertain significance
rs760374869	2:128,180,635	C/T	—	likely benign
rs945459808	2:128,180,646	C/G	—	uncertain significance
rs776372871	2:128,180,647	G/A	—	likely benign
rs2468336513	2:128,180,648	T/G	—	uncertain significance
rs764808999	2:128,180,650	C/A	—	conflicting classifications of pathogenicity
rs199469479	2:128,180,663	T/G	missense variant	—
rs1252000412	2:128,180,666	G/A	—	uncertain significance
rs200234655	2:128,180,669	C/A	—	uncertain significance
rs1156578125	2:128,180,672	G/T	—	uncertain significance
rs370147557	2:128,180,676	C/G	—	uncertain significance
rs374476971	2:128,180,687	G/T	—	pathogenic
rs2468337001	2:128,180,693	G/C	—	uncertain significance
rs199469477	2:128,180,696	—	—	—
rs1553424043	2:128,180,699	T/C	—	likely pathogenic
rs2468337187	2:128,180,711	T/G	—	uncertain significance
rs939496684	2:128,180,719	C/G	—	uncertain significance
rs2468337332	2:128,180,729	G/C	—	likely pathogenic
rs746190838	2:128,180,733	G/A	—	uncertain significance
rs1558713430	2:128,180,735	T/C	—	uncertain significance
rs2468337444	2:128,180,736	T/C	—	uncertain significance

Showing 100 of 333 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.