ORC4

origin recognition complex subunit 4

Summary

The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]

Known Variants150 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1167416423	2:148,693,115	C/T	—	likely benign
rs2467849260	2:148,693,150	C/G	—	uncertain significance
rs797045852	2:148,693,164	—	—	pathogenic
rs1688005448	2:148,693,188	A/G	—	uncertain significance
rs778728819	2:148,693,204	G/C	—	uncertain significance
rs746710097	2:148,693,227	A/T	—	uncertain significance
rs2105247386	2:148,693,228	T/C	—	uncertain significance
rs1688009564	2:148,693,239	A/G	—	uncertain significance
rs780860667	2:148,693,254	A/G	—	uncertain significance
rs2467849910	2:148,693,273	A/G	—	likely benign
rs200141046	2:148,693,281	G/T	—	benign
rs1688159655	2:148,695,726	C/T	—	uncertain significance
rs372244689	2:148,695,732	T/A	—	uncertain significance
rs138876526	2:148,695,747	C/T	—	conflicting classifications of pathogenicity
rs772177872	2:148,695,757	T/C	—	likely benign
rs2105256289	2:148,695,769	A/G	—	likely benign
rs762798777	2:148,695,797	A/G	—	uncertain significance
rs201217453	2:148,695,798	T/C	—	likely benign
rs757557596	2:148,695,847	C/G	—	likely benign
rs374973087	2:148,695,853	A/C	—	likely benign
rs369212077	2:148,695,859	C/T	—	likely benign
rs746381356	2:148,695,862	C/T	—	uncertain significance
rs201791438	2:148,695,867	C/T	—	uncertain significance
rs1350022890	2:148,695,918	A/T	—	uncertain significance
rs767305708	2:148,695,935	A/G	—	uncertain significance
rs763748239	2:148,695,942	A/C	—	uncertain significance
rs78758762	2:148,695,958	T/C	—	benign
rs556939226	2:148,695,977	A/G	—	likely benign
rs374817217	2:148,696,701	G/A	—	likely benign
rs764747505	2:148,696,704	C/A	—	uncertain significance
rs2105259429	2:148,696,711	T/C	—	likely pathogenic
rs2467866261	2:148,696,718	T/C	—	uncertain significance
rs766925264	2:148,696,728	C/T	—	likely benign
rs752102540	2:148,696,729	G/C	—	uncertain significance
rs2467866643	2:148,696,748	G/A	—	pathogenic
rs1688227991	2:148,696,750	C/G	—	uncertain significance
rs200239981	2:148,696,765	T/C	—	uncertain significance
rs776141895	2:148,696,771	G/A	—	uncertain significance
rs542121583	2:148,696,788	C/A	—	likely benign
rs144397680	2:148,696,789	G/C	—	uncertain significance
rs1246524534	2:148,696,801	C/T	—	uncertain significance
rs75002266	2:148,696,810	G/A	—	likely benign
rs1414251905	2:148,701,022	A/G	—	uncertain significance
rs548305563	2:148,701,024	C/T	—	uncertain significance
rs1573753462	2:148,701,038	G/T	—	likely benign
rs1315227032	2:148,701,042	T/C	—	uncertain significance
rs2467883268	2:148,701,048	T/G	—	uncertain significance
rs769409347	2:148,701,095	A/C	—	conflicting classifications of pathogenicity
rs1332921904	2:148,701,096	A/C	—	uncertain significance
rs201854249	2:148,701,107	A/G	—	benign
rs765466278	2:148,705,604	T/C	—	likely benign
rs750621033	2:148,705,614	A/G	—	uncertain significance
rs2467899789	2:148,705,638	C/T	—	likely benign
rs756015637	2:148,705,649	A/C	—	uncertain significance
rs2467899903	2:148,705,658	C/T	—	uncertain significance
rs1423220954	2:148,705,678	G/A	—	uncertain significance
rs1688754310	2:148,705,680	T/G	—	uncertain significance
rs147612226	2:148,705,706	A/G	—	uncertain significance
rs1688757129	2:148,705,717	C/T	—	uncertain significance
rs1422827347	2:148,705,744	C/T	—	uncertain significance
rs368518200	2:148,705,746	G/T	—	uncertain significance
rs1315378962	2:148,705,753	A/C	—	uncertain significance
rs535159793	2:148,705,759	G/C	—	pathogenic
rs73003466	2:148,705,778	A/C	—	conflicting classifications of pathogenicity
rs17231952	2:148,705,918	G/A	—	likely benign
rs13027200	2:148,709,653	A/G	—	benign
rs2467915944	2:148,709,927	A/T	—	likely benign
rs376350848	2:148,709,929	C/T	—	likely benign
rs2105297960	2:148,709,937	C/T	—	uncertain significance
rs528906038	2:148,709,946	C/T	—	uncertain significance
rs753778942	2:148,709,961	A/G	—	uncertain significance
rs749984565	2:148,709,993	A/C	—	uncertain significance
rs1558837761	2:148,709,999	A/G	—	likely benign
rs757932218	2:148,710,002	A/C	—	likely benign
rs387906847	2:148,710,009	T/C	missense variant	pathogenic
rs2105298189	2:148,710,012	A/G	—	uncertain significance
rs2467916572	2:148,710,016	G/A	—	uncertain significance
rs2467916606	2:148,710,020	T/C	—	likely benign
rs200458546	2:148,710,023	G/A	—	likely benign
rs1689010032	2:148,710,031	G/T	—	uncertain significance
rs2467916715	2:148,710,032	A/T	—	uncertain significance
rs193033266	2:148,710,042	A/G	—	uncertain significance
rs1553452537	2:148,710,078	C/T	—	uncertain significance
rs753087343	2:148,710,087	C/T	—	uncertain significance
rs1403735168	2:148,710,095	T/C	—	likely pathogenic
rs770977472	2:148,710,108	G/A	—	likely benign
rs12104822	2:148,710,361	T/C	—	benign
rs371727511	2:148,712,898	G/A	—	likely benign
rs1400274288	2:148,712,903	T/C	—	likely benign
rs1266895677	2:148,712,940	A/G	—	uncertain significance
rs2105306744	2:148,712,942	G/C	—	pathogenic
rs551847037	2:148,712,948	T/G	—	uncertain significance
rs17219127	2:148,713,258	A/G	—	likely benign
rs760336875	2:148,715,856	A/G	—	likely benign
rs570567328	2:148,715,860	T/A	—	likely benign
rs2467941178	2:148,715,864	T/C	—	uncertain significance
rs750863046	2:148,715,875	T/C	—	uncertain significance
rs2105314346	2:148,715,888	A/C	—	uncertain significance
rs61750441	2:148,715,901	A/G	—	conflicting classifications of pathogenicity
rs1221060917	2:148,715,907	C/T	—	uncertain significance

Showing 100 of 150 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.