ERCC6

ERCC excision repair 6, chromatin remodeling factor

Summary

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]

Known Variants1,475 total

rsidPosition (GRCh37)AllelesClassClinVar
rs214726710:50,654,305C/A——
rs18239569610:50,662,653T/C—likely benign
rs11755505410:50,662,771C/T—conflicting classifications of pathogenicity
rs56956427810:50,662,842T/C—conflicting classifications of pathogenicity
rs98119076510:50,662,936T/C—uncertain significance
rs53398466710:50,662,940T/C—likely benign
rs7329774810:50,663,038A/G—benign
rs18347249210:50,663,141A/G—uncertain significance
rs139309309410:50,663,157G/A—uncertain significance
rs57082243410:50,663,177T/C—uncertain significance
rs14212232710:50,663,466T/G—benign
rs185046925610:50,663,495C/T—uncertain significance
rs56303445210:50,663,505G/A—uncertain significance
rs14669052210:50,663,581T/C—conflicting classifications of pathogenicity
rs75892878410:50,663,644A/C—uncertain significance
rs95131384010:50,663,888G/C—uncertain significance
rs14652908110:50,663,915G/A—benign
rs14112103510:50,664,095A/C—conflicting classifications of pathogenicity
rs53561673610:50,664,132C/T—conflicting classifications of pathogenicity
rs3547184910:50,664,181T/G—uncertain significance
rs92432483610:50,664,199A/G—uncertain significance
rs4128195310:50,664,259T/C—uncertain significance
rs53549575010:50,664,321C/A—uncertain significance
rs56602778410:50,664,401A/G—uncertain significance
rs55794484610:50,664,524T/G—likely benign
rs19224258310:50,664,624G/A—conflicting classifications of pathogenicity
rs11418360310:50,664,706A/G—likely benign
rs11472389910:50,664,724T/C—likely benign
rs14929419810:50,664,742G/A—likely benign
rs105097518310:50,664,830T/C—uncertain significance
rs74878330510:50,664,928T/C—uncertain significance
rs11528181410:50,664,989G/A—benign
rs88604702210:50,665,001T/C—uncertain significance
rs1110113710:50,665,031A/G—benign
rs185049423710:50,665,056C/A—uncertain significance
rs18822852210:50,665,081A/G—uncertain significance
rs88604702310:50,665,478A/C—uncertain significance
rs11728937410:50,665,534C/T—likely benign
rs54205347210:50,665,547C/T—likely benign
rs18994233810:50,665,582A/T—uncertain significance
rs18217714010:50,665,586G/C—benign
rs18626213310:50,665,749C/T—uncertain significance
rs76595919010:50,665,884T/C—uncertain significance
rs375075110:50,665,928C/T—benign
rs56220448110:50,665,939G/A—uncertain significance
rs18997967010:50,665,961G/A—uncertain significance
rs18132767810:50,666,048G/A—conflicting classifications of pathogenicity
rs88604702410:50,666,106T/C—uncertain significance
rs88604702510:50,666,110C/T—uncertain significance
rs54701422710:50,666,180C/T—uncertain significance
rs88604702610:50,666,216C/G—uncertain significance
rs88604702710:50,666,218C/T—uncertain significance
rs185051549710:50,666,272T/C—uncertain significance
rs88604702810:50,666,379G/T—uncertain significance
rs88604702910:50,666,473G/T—uncertain significance
rs425323410:50,666,482G/C—benign
rs88604703010:50,666,520T/C—uncertain significance
rs185052093110:50,666,615A/G—uncertain significance
rs425323310:50,666,743T/G—likely benign
rs425323110:50,666,808A/G—benign
rs75663949510:50,666,823T/C—uncertain significance
rs126345062410:50,666,867G/A—likely benign
rs74602834410:50,666,879G/A—likely benign
rs213252341910:50,666,883T/G—uncertain significance
rs77242676210:50,666,890T/C—uncertain significance
rs213252342710:50,666,894T/C—likely benign
rs57430705210:50,666,898C/A—uncertain significance
rs249594246110:50,666,903A/G—likely benign
rs156472461610:50,666,906A/G—likely benign
rs94428850310:50,666,912A/G—likely benign
rs11440379010:50,666,913T/C—conflicting classifications of pathogenicity
rs249594253310:50,666,916A/G—uncertain significance
rs185052581110:50,666,921G/A—likely benign
rs213252346510:50,666,924C/G—likely benign
rs249594260410:50,666,935A/G—likely benign
rs14555452510:50,666,943C/T—conflicting classifications of pathogenicity
rs76297631610:50,666,944G/A—uncertain significance
rs185052626510:50,666,948G/A—likely benign
rs20042487910:50,666,949A/G—uncertain significance
rs20181352310:50,666,950C/T—conflicting classifications of pathogenicity
rs145648627310:50,666,951A/G—likely benign
rs75912503910:50,666,952C/G—uncertain significance
rs185052670610:50,666,954A/G—likely benign
rs249594274910:50,666,960T/C—likely benign
rs155487374310:50,666,961G/C—uncertain significance
rs249594278510:50,666,975G/A—likely benign
rs75648467210:50,666,988T/C—uncertain significance
rs185052719910:50,666,992G/C—uncertain significance
rs249594285810:50,667,002G/A—likely benign
rs249594286310:50,667,004T/C—uncertain significance
rs76463285810:50,667,005G/A—likely benign
rs133829038310:50,667,013G/A—uncertain significance
rs213252359510:50,667,020A/G—likely benign
rs425323010:50,667,021G/A—benign
rs20025450810:50,667,026G/A—likely benign
rs53067359610:50,667,028C/G—benign
rs75867980410:50,667,034A/T—uncertain significance
rs74794104510:50,667,037C/T—uncertain significance
rs137717166510:50,667,038G/A—likely benign
rs76943403610:50,667,045T/C—uncertain significance

Showing 100 of 1,475 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.