ABCC8

ATP binding cassette subfamily C member 8

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]

Known Variants1,901 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14244189311:17,414,420T/C—conflicting classifications of pathogenicity
rs88604804611:17,414,445A/T—uncertain significance
rs76043902711:17,414,531T/G—uncertain significance
rs14355784811:17,414,551C/T—conflicting classifications of pathogenicity
rs130177409011:17,414,555C/T—uncertain significance
rs123779038211:17,414,562G/A—likely benign
rs19973686011:17,414,564C/T—uncertain significance
rs77204510511:17,414,565G/A—likely benign
rs74740297211:17,414,571G/A—conflicting classifications of pathogenicity
rs249642909311:17,414,574G/A—likely benign
rs19237191711:17,414,577C/T—likely benign
rs195370749811:17,414,580C/G—likely benign
rs37474307211:17,414,581C/T—conflicting classifications of pathogenicity
rs126857624511:17,414,582G/T—likely benign
rs249642929911:17,414,586G/A—likely benign
rs77031756011:17,414,594T/C—conflicting classifications of pathogenicity
rs249642937411:17,414,598T/C—likely benign
rs249642941311:17,414,601C/T—likely benign
rs77110616011:17,414,607G/A—likely benign
rs213339007811:17,414,610C/G—uncertain significance
rs145764293911:17,414,613A/G—likely benign
rs249642964811:17,414,622A/G—likely benign
rs76049415911:17,414,623C/T—pathogenic
rs213339014011:17,414,625C/G—likely benign
rs76380989211:17,414,627G/A—uncertain significance
rs14538642111:17,414,628C/T—conflicting classifications of pathogenicity
rs1784672111:17,414,631C/T—conflicting classifications of pathogenicity
rs132074016911:17,414,633G/A—likely benign
rs249642990811:17,414,634G/A—likely benign
rs122176058411:17,414,635A/T—uncertain significance
rs36786270611:17,414,637G/A—conflicting classifications of pathogenicity
rs7255971311:17,414,656A/Gmissense variantpathogenic
rs249643016511:17,414,661G/A—likely benign
rs249643018211:17,414,664G/A—likely benign
rs19392240811:17,414,669C/Tmissense variantuncertain significance
rs249643026711:17,414,670T/A—likely benign
rs156486985011:17,414,671C/T—pathogenic
rs141163830911:17,414,672G/A—pathogenic
rs213339031711:17,414,674T/C—likely pathogenic
rs213339033411:17,414,685G/A—likely benign
rs104527345811:17,414,691G/A—likely benign
rs75119496411:17,414,692G/A—likely benign
rs75541086311:17,414,695G/T—likely benign
rs110959111:17,414,715C/T—benign
rs4128291211:17,414,757C/T—benign
rs11772775411:17,415,057C/G—likely benign
rs1784671911:17,415,143A/C—benign
rs414864611:17,415,190C/G—benign
rs75645118511:17,415,224C/T—likely benign
rs249643416811:17,415,226C/T—likely benign
rs249643419611:17,415,231A/G—likely benign
rs213339289711:17,415,233G/A—likely benign
rs75430488911:17,415,234G/A—conflicting classifications of pathogenicity
rs75729728211:17,415,235G/C—likely benign
rs77903271811:17,415,237C/T—likely benign
rs213339295211:17,415,243C/T—pathogenic
rs143946481511:17,415,244C/T—uncertain significance
rs74591824711:17,415,245G/A—uncertain significance
rs77233200511:17,415,246C/G—uncertain significance
rs78020328411:17,415,247G/A—conflicting classifications of pathogenicity
rs195375156911:17,415,251G/T—uncertain significance
rs159170393411:17,415,259A/G—likely benign
rs79689122311:17,415,261T/G—conflicting classifications of pathogenicity
rs74792887611:17,415,263C/T—uncertain significance
rs14880885411:17,415,264G/A—uncertain significance
rs77304215011:17,415,271G/A—conflicting classifications of pathogenicity
rs249643470711:17,415,275G/C—uncertain significance
rs195375383811:17,415,283C/T—likely benign
rs19392240711:17,415,288C/Tmissense variantpathogenic
rs14227283311:17,415,289C/A—conflicting classifications of pathogenicity
rs213339319311:17,415,297G/A—uncertain significance
rs19392240611:17,415,299A/Cmissense variantpathogenic
rs213339324111:17,415,305T/C—likely pathogenic
rs249643508811:17,415,307C/T—likely pathogenic
rs77098464711:17,415,310C/T—conflicting classifications of pathogenicity
rs213339327211:17,415,312A/T—uncertain significance
rs127350304811:17,415,314G/A—conflicting classifications of pathogenicity
rs195375606211:17,415,316G/T—likely benign
rs90542473411:17,415,318G/A—likely benign
rs100223409711:17,415,319G/T—likely benign
rs249643521311:17,415,320G/A—likely benign
rs77404153711:17,415,324C/T—likely benign
rs11290177311:17,415,622C/T—likely benign
rs76166328811:17,415,794G/C—likely benign
rs249643857411:17,415,797G/A—likely benign
rs87925209311:17,415,799G/C—likely benign
rs7833817211:17,415,800G/A—conflicting classifications of pathogenicity
rs37157058311:17,415,802C/T—likely benign
rs77501835111:17,415,804A/G—conflicting classifications of pathogenicity
rs76043346311:17,415,809C/T—uncertain significance
rs155490400611:17,415,811A/G—likely pathogenic
rs249643880111:17,415,812C/G—likely pathogenic
rs76998918511:17,415,814G/A—pathogenic
rs11328290111:17,415,816G/T—likely benign
rs249643888211:17,415,820A/G—likely pathogenic
rs249643890311:17,415,822G/A—likely benign
rs195378701511:17,415,825A/C—uncertain significance
rs213339476811:17,415,826A/T—pathogenic
rs195378738711:17,415,831A/C—uncertain significance
rs55374634511:17,415,834C/T—conflicting classifications of pathogenicity

Showing 100 of 1,901 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.