ABCB1
ATP binding cassette subfamily B member 1
Summary
The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Known Variants677 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1584823236 | 7:87,133,135 | G/A | — | drug response |
| rs1584823240 | 7:87,133,138 | A/G | — | drug response |
| rs1584823244 | 7:87,133,139 | G/C | — | drug response |
| rs1584823254 | 7:87,133,165 | C/T | — | drug response |
| rs887308819 | 7:87,133,180 | C/T | — | drug response |
| rs1584823290 | 7:87,133,196 | T/G | — | drug response |
| rs1414173164 | 7:87,133,261 | G/A | — | drug response |
| rs1584823368 | 7:87,133,287 | A/G | — | drug response |
| rs1584823377 | 7:87,133,292 | A/G | — | drug response |
| rs549753290 | 7:87,133,336 | G/A | — | drug response |
| rs3842 | 7:87,133,366 | T/C | 3 prime UTR variant | drug response |
| rs1584823470 | 7:87,133,370 | T/G | — | drug response |
| rs1584823473 | 7:87,133,373 | T/A | — | drug response |
| rs1584823480 | 7:87,133,376 | C/A | — | drug response |
| rs1201355238 | 7:87,133,380 | T/G | — | drug response |
| rs1584823499 | 7:87,133,385 | G/A | — | drug response |
| rs1584823519 | 7:87,133,398 | C/G | — | drug response |
| rs1584823531 | 7:87,133,404 | C/T | — | drug response |
| rs1584823541 | 7:87,133,405 | T/C | — | drug response |
| rs1584823594 | 7:87,133,468 | C/G | — | drug response |
| rs17064 | 7:87,133,470 | T/A | — | drug response |
| rs1584823642 | 7:87,133,490 | T/G | — | drug response |
| rs1584823651 | 7:87,133,495 | C/G | — | drug response |
| rs1584823655 | 7:87,133,496 | T/G | — | drug response |
| rs749904097 | 7:87,133,531 | A/C | — | drug response |
| rs1584823717 | 7:87,133,539 | A/G | — | drug response |
| rs202026600 | 7:87,133,546 | A/G | — | drug response |
| rs1584823745 | 7:87,133,565 | G/A | — | drug response |
| rs137996914 | 7:87,133,567 | G/T | — | uncertain significance |
| rs2117053160 | 7:87,133,576 | C/T | — | uncertain significance |
| rs1457191518 | 7:87,133,601 | A/T | — | drug response |
| rs1415447553 | 7:87,133,602 | T/G | — | drug response |
| rs1584823811 | 7:87,133,603 | A/C | — | drug response |
| rs771100707 | 7:87,133,633 | G/A | — | uncertain significance |
| rs149482536 | 7:87,133,634 | C/T | — | likely benign |
| rs1584823866 | 7:87,133,644 | T/C | — | drug response |
| rs28364274 | 7:87,133,651 | C/T | missense variant | benign |
| rs1373455786 | 7:87,133,653 | C/T | — | drug response |
| rs2235051 | 7:87,133,655 | G/C | — | likely benign |
| rs201609930 | 7:87,133,656 | C/T | — | drug response |
| rs200637194 | 7:87,133,695 | G/A | missense variant | — |
| rs563375387 | 7:87,133,705 | G/A | — | uncertain significance |
| rs1584824009 | 7:87,133,711 | C/T | — | drug response |
| rs757394498 | 7:87,133,714 | T/C | — | drug response |
| rs1584824060 | 7:87,133,723 | A/T | — | drug response |
| rs1281746264 | 7:87,133,729 | G/A | — | uncertain significance |
| rs1344972013 | 7:87,133,737 | C/G | — | uncertain significance |
| rs1584824131 | 7:87,133,753 | C/T | — | drug response |
| rs1584824153 | 7:87,133,759 | G/T | — | drug response |
| rs1584824159 | 7:87,133,761 | A/C | — | drug response |
| rs1584824182 | 7:87,133,776 | A/C | — | drug response |
| rs1584826185 | 7:87,135,183 | A/G | — | drug response |
| rs1584826310 | 7:87,135,248 | C/T | — | drug response |
| rs1584826349 | 7:87,135,278 | C/T | — | drug response |
| rs764463583 | 7:87,135,295 | G/T | — | drug response |
| rs199676098 | 7:87,135,302 | G/A | — | uncertain significance |
| rs1421351917 | 7:87,135,305 | G/A | — | drug response |
| rs1584826422 | 7:87,135,306 | T/G | — | drug response |
| rs1584826433 | 7:87,135,308 | T/A | — | drug response |
| rs1584826485 | 7:87,135,326 | G/A | — | drug response |
| rs1584826521 | 7:87,135,348 | A/T | — | drug response |
| rs1584826524 | 7:87,135,370 | G/A | — | drug response |
| rs1584826607 | 7:87,135,425 | G/A | — | drug response |
| rs1584826651 | 7:87,135,443 | T/G | — | drug response |
| rs762374613 | 7:87,138,573 | A/G | — | drug response |
| rs1255216813 | 7:87,138,586 | C/T | — | drug response |
| rs1045642 | 7:87,138,645 | A/G | synonymous variant | drug response |
| rs2032583 | 7:87,138,645 | G/A | intronic | — |
| rs2229107 | 7:87,138,659 | A/T | missense variant | likely benign |
| rs773597757 | 7:87,138,668 | G/A | — | uncertain significance |
| rs34748655 | 7:87,138,684 | G/A | — | benign |
| rs763091787 | 7:87,138,695 | C/T | — | uncertain significance |
| rs1584829568 | 7:87,138,703 | C/A | — | drug response |
| rs758212180 | 7:87,138,707 | A/T | — | drug response |
| rs1253462004 | 7:87,138,710 | C/T | — | drug response |
| rs1584829602 | 7:87,138,725 | C/T | — | drug response |
| rs1584829608 | 7:87,138,728 | G/C | — | uncertain significance |
| rs1455949602 | 7:87,138,729 | G/C | — | drug response |
| rs35730308 | 7:87,138,758 | A/G | missense variant | — |
| rs55852620 | 7:87,138,760 | T/G | — | conflicting classifications of pathogenicity |
| rs1290687132 | 7:87,138,834 | G/A | — | drug response |
| rs61040122 | 7:87,138,847 | G/A | — | drug response |
| rs1584829851 | 7:87,138,851 | C/T | — | drug response |
| rs949343048 | 7:87,138,858 | A/G | — | drug response |
| rs1584829872 | 7:87,138,863 | C/T | — | drug response |
| rs1002205 | 7:87,141,174 | G/T | — | — |
| rs191479569 | 7:87,141,310 | C/T | intron variant | — |
| rs141755720 | 7:87,144,515 | C/A | — | drug response |
| rs746205498 | 7:87,144,520 | C/A | — | drug response |
| rs1584834617 | 7:87,144,545 | A/C | — | drug response |
| rs1584834623 | 7:87,144,548 | A/C | — | drug response |
| rs776827328 | 7:87,144,552 | T/C | — | drug response |
| rs200514028 | 7:87,144,582 | G/C | — | uncertain significance |
| rs1377795423 | 7:87,144,594 | C/T | — | drug response |
| rs1584834796 | 7:87,144,605 | C/T | — | drug response |
| rs373789868 | 7:87,144,622 | C/G | — | drug response |
| rs1584834848 | 7:87,144,628 | A/C | — | drug response |
| rs368096241 | 7:87,144,634 | C/T | — | drug response |
| rs761914266 | 7:87,144,642 | C/A | — | drug response |
| rs1584834899 | 7:87,144,644 | T/C | — | drug response |
Showing 100 of 677 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.