ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

Summary

The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]

Known Variants130 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1046282	19:45,910,672	A/G	upstream gene variant	—
rs545753812	19:45,911,267	A/T	—	—
rs735482	19:45,912,002	A/C	missense variant	benign
rs3212989	19:45,912,070	A/G	missense variant	benign
rs762562	19:45,912,343	G/A	—	benign
rs2336219	19:45,912,406	G/A	missense variant	—
rs3212986	19:45,912,736	C/A	missense variant	benign
rs118178942	19:45,912,750	A/G	—	likely benign
rs2229918	19:45,912,924	C/G	—	likely benign
rs374407868	19:45,912,957	G/A	—	likely benign
rs765177749	19:45,912,963	G/A	—	likely benign
rs1244662643	19:45,912,992	G/A	—	likely benign
rs3212985	19:45,913,086	C/G	—	benign
rs1007616	19:45,913,093	T/C	—	benign
rs7507745	19:45,913,156	T/A	—	benign
rs546098765	19:45,913,159	T/A	—	likely benign
rs559719306	19:45,913,162	T/A	—	likely benign
rs540662190	19:45,913,250	C/T	—	likely benign
rs3212980	19:45,916,441	T/G	downstream gene variant	—
rs104894988	19:45,916,578	G/A	—	not provided
rs3212978	19:45,916,587	T/C	—	benign
rs141876321	19:45,916,814	G/A	—	uncertain significance
rs200865944	19:45,916,818	G/A	—	likely benign
rs749775040	19:45,916,830	G/C	—	likely benign
rs775794240	19:45,916,883	T/C	—	uncertain significance
rs760862492	19:45,916,887	G/T	—	likely benign
rs116640350	19:45,916,903	C/T	—	likely benign
rs78363670	19:45,916,929	T/C	—	likely benign
rs146256515	19:45,916,979	A/G	—	uncertain significance
rs772546871	19:45,916,980	T/C	—	likely benign
rs3212977	19:45,916,982	C/G	—	uncertain significance
rs144154880	19:45,916,983	G/A	—	likely benign
rs144868115	19:45,916,985	C/T	—	uncertain significance
rs3212976	19:45,916,986	G/A	—	likely benign
rs753536654	19:45,917,017	G/A	—	likely benign
rs140904740	19:45,917,018	C/T	—	likely benign
rs200849876	19:45,917,019	G/A	—	likely benign
rs372342771	19:45,917,023	G/A	—	likely benign
rs104894989	19:45,917,157	G/A	—	not provided
rs1352772109	19:45,917,237	A/C	—	uncertain significance
rs141279286	19:45,917,272	G/A	—	likely benign
rs749328536	19:45,917,294	T/C	—	likely pathogenic
rs140379369	19:45,917,584	A/C	—	likely benign
rs121913028	19:45,918,128	G/C	missense variant	pathogenic
rs886039224	19:45,918,145	T/A	stop gained	not provided
rs764503289	19:45,918,202	G/A	—	uncertain significance
rs748108352	19:45,918,224	A/G	—	likely benign
rs367887072	19:45,918,244	C/A	—	likely benign
rs41558212	19:45,918,245	G/A	—	likely benign
rs139093672	19:45,918,388	C/T	—	likely benign
rs113358271	19:45,918,536	T/G	—	benign
rs3212968	19:45,919,803	G/C	—	likely benign
rs16979802	19:45,919,955	G/C	—	benign
rs574521163	19:45,920,084	G/A	—	likely benign
rs375782694	19:45,920,087	G/A	—	likely benign
rs368405178	19:45,920,104	C/T	—	uncertain significance
rs766545486	19:45,920,105	G/A	—	likely benign
rs750062887	19:45,920,156	C/T	—	likely pathogenic
rs3212967	19:45,920,264	G/A	—	benign
rs3212964	19:45,920,796	C/T	intron variant	—
rs3212961	19:45,922,323	G/A	intron variant	benign
rs376918930	19:45,922,347	C/T	—	likely benign
rs1555787722	19:45,922,354	A/G	—	pathogenic
rs1305244369	19:45,922,358	C/A	—	uncertain significance
rs2513611712	19:45,922,379	C/T	—	uncertain significance
rs2123500957	19:45,922,399	C/T	—	uncertain significance
rs121913027	19:45,922,409	G/A	stop gained	pathogenic
rs201089019	19:45,922,414	C/T	—	uncertain significance
rs757369063	19:45,922,415	G/A	—	conflicting classifications of pathogenicity
rs778375814	19:45,922,419	A/G	—	benign
rs373490129	19:45,922,439	G/C	—	uncertain significance
rs1325680849	19:45,922,455	G/A	—	likely benign
rs1378912203	19:45,922,461	G/A	—	likely benign
rs750362155	19:45,922,462	G/A	—	likely benign
rs549981151	19:45,922,464	G/A	—	likely benign
rs1410221082	19:45,922,465	G/A	—	likely benign
rs104894990	19:45,922,466	C/T	—	not provided
rs201856533	19:45,922,474	G/A	—	likely benign
rs55740187	19:45,922,553	G/A	—	likely benign
rs56017284	19:45,922,623	G/C	—	likely benign
rs3212955	19:45,923,496	T/C	—	benign
rs3212954	19:45,923,547	C/G	—	benign
rs56148539	19:45,923,617	A/G	—	likely benign
rs139827427	19:45,923,623	G/A	—	likely benign
rs112246053	19:45,923,632	G/A	—	likely benign
rs181766045	19:45,923,635	G/A	—	likely benign
rs11615	19:45,923,653	A/G	synonymous variant	benign
rs774275993	19:45,923,657	C/T	—	uncertain significance
rs200459924	19:45,923,661	C/T	—	uncertain significance
rs571797380	19:45,923,662	G/A	—	likely benign
rs200767762	19:45,923,674	G/A	—	likely benign
rs567625462	19:45,923,678	T/C	—	uncertain significance
rs758678901	19:45,923,698	G/A	—	likely benign
rs104894991	19:45,923,808	C/T	—	not provided
rs3212953	19:45,923,959	C/A	—	benign
rs3212948	19:45,924,362	G/C	intron variant	benign
rs202176599	19:45,924,422	G/A	—	likely benign
rs781333076	19:45,924,451	A/G	—	likely benign
rs2513624326	19:45,924,456	T/C	—	uncertain significance
rs769399848	19:45,924,491	T/C	—	uncertain significance

Showing 100 of 130 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.