ABCB4
ATP binding cassette subfamily B member 4
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 as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
Known Variants792 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77463367 | 7:87,006,034 | C/G | intron variant | — |
| rs147423000 | 7:87,013,106 | C/T | intron variant | — |
| rs7776867 | 7:87,014,355 | C/T | intron variant | — |
| rs117788595 | 7:87,021,524 | G/A | intron variant | — |
| rs28860289 | 7:87,024,685 | A/C | — | — |
| rs115038698 | 7:87,024,718 | C/A | — | — |
| rs144656711 | 7:87,025,346 | T/A | intron variant | — |
| rs754770911 | 7:87,031,414 | A/T | — | likely pathogenic |
| rs1029350022 | 7:87,031,436 | G/A | — | conflicting classifications of pathogenicity |
| rs768236469 | 7:87,031,441 | T/G | — | uncertain significance |
| rs1176145576 | 7:87,031,487 | C/T | — | likely benign |
| rs147577035 | 7:87,031,488 | G/A | — | uncertain significance |
| rs1807831740 | 7:87,031,501 | T/G | — | uncertain significance |
| rs752913074 | 7:87,031,508 | C/T | — | likely benign |
| rs2546735713 | 7:87,031,515 | T/G | — | uncertain significance |
| rs2546735725 | 7:87,031,520 | C/A | — | likely benign |
| rs772206941 | 7:87,031,547 | G/A | — | conflicting classifications of pathogenicity |
| rs1160711086 | 7:87,031,557 | C/T | — | uncertain significance |
| rs369147999 | 7:87,031,558 | G/A | — | uncertain significance |
| rs2116295930 | 7:87,031,560 | T/C | — | uncertain significance |
| rs768448686 | 7:87,031,572 | A/C | — | uncertain significance |
| rs769306313 | 7:87,031,576 | A/C | — | uncertain significance |
| rs144790968 | 7:87,031,581 | C/T | — | uncertain significance |
| rs752080958 | 7:87,031,588 | C/T | — | uncertain significance |
| rs2116296479 | 7:87,031,593 | G/T | — | uncertain significance |
| rs2546735994 | 7:87,031,601 | C/T | — | likely benign |
| rs1180429150 | 7:87,031,609 | C/T | — | uncertain significance |
| rs200404041 | 7:87,031,610 | T/C | — | likely benign |
| rs45549641 | 7:87,031,690 | A/G | — | benign |
| rs1526090 | 7:87,031,809 | A/G | — | benign |
| rs45613941 | 7:87,031,846 | T/G | — | benign |
| rs45437295 | 7:87,032,251 | G/T | — | benign |
| rs45552036 | 7:87,032,367 | T/C | — | likely benign |
| rs1483670777 | 7:87,032,432 | G/A | — | likely benign |
| rs1807924256 | 7:87,032,435 | G/T | — | likely benign |
| rs1220688736 | 7:87,032,441 | C/T | — | likely benign |
| rs1554396917 | 7:87,032,442 | C/T | — | conflicting classifications of pathogenicity |
| rs1245472904 | 7:87,032,450 | C/A | — | pathogenic |
| rs1477448807 | 7:87,032,463 | A/G | — | likely benign |
| rs748842753 | 7:87,032,476 | G/C | stop gained | pathogenic |
| rs770421980 | 7:87,032,487 | A/T | — | uncertain significance |
| rs2546738991 | 7:87,032,492 | A/G | — | likely benign |
| rs370310867 | 7:87,032,496 | G/A | — | conflicting classifications of pathogenicity |
| rs1431382496 | 7:87,032,499 | G/A | — | likely benign |
| rs1807929511 | 7:87,032,502 | T/C | — | likely benign |
| rs1562946432 | 7:87,032,507 | G/T | — | uncertain significance |
| rs766672265 | 7:87,032,519 | G/C | — | uncertain significance |
| rs1460630569 | 7:87,032,525 | G/C | — | uncertain significance |
| rs8187811 | 7:87,032,531 | T/C | — | uncertain significance |
| rs913621236 | 7:87,032,540 | T/A | — | uncertain significance |
| rs140592811 | 7:87,032,541 | C/T | — | conflicting classifications of pathogenicity |
| rs2546739198 | 7:87,032,543 | G/A | — | pathogenic |
| rs1584665400 | 7:87,032,549 | G/A | — | likely pathogenic |
| rs886043650 | 7:87,032,551 | C/A | — | uncertain significance |
| rs765296260 | 7:87,032,563 | T/A | — | uncertain significance |
| rs1807936303 | 7:87,032,564 | G/A | — | pathogenic |
| rs866984082 | 7:87,032,578 | C/T | — | likely pathogenic |
| rs1807938184 | 7:87,032,580 | C/T | — | conflicting classifications of pathogenicity |
| rs2546739348 | 7:87,032,587 | G/C | — | uncertain significance |
| rs905025919 | 7:87,032,592 | A/C | — | pathogenic |
| rs1562946659 | 7:87,032,596 | T/A | — | uncertain significance |
| rs31653 | 7:87,032,613 | A/G | downstream gene variant | benign |
| rs761147638 | 7:87,035,591 | C/G | — | likely benign |
| rs764513998 | 7:87,035,603 | C/T | — | pathogenic |
| rs121918442 | 7:87,035,609 | G/A | missense variant | pathogenic |
| rs2546746033 | 7:87,035,612 | A/G | — | likely benign |
| rs368458295 | 7:87,035,613 | C/T | — | conflicting classifications of pathogenicity |
| rs145056464 | 7:87,035,614 | G/A | — | uncertain significance |
| rs752578370 | 7:87,035,619 | G/A | — | conflicting classifications of pathogenicity |
| rs138850786 | 7:87,035,639 | C/T | — | uncertain significance |
| rs2546746223 | 7:87,035,643 | T/C | — | likely benign |
| rs886044011 | 7:87,035,654 | T/G | — | uncertain significance |
| rs1562948881 | 7:87,035,656 | A/G | — | uncertain significance |
| rs372427470 | 7:87,035,659 | A/G | — | uncertain significance |
| rs1035550970 | 7:87,035,675 | C/A | — | uncertain significance |
| rs771437431 | 7:87,035,679 | C/G | — | conflicting classifications of pathogenicity |
| rs747453583 | 7:87,035,681 | G/A | — | uncertain significance |
| rs769158576 | 7:87,035,682 | G/A | — | likely benign |
| rs371394487 | 7:87,035,688 | G/A | — | conflicting classifications of pathogenicity |
| rs2546746459 | 7:87,035,691 | T/C | — | likely benign |
| rs2546746513 | 7:87,035,703 | A/G | — | likely benign |
| rs766402494 | 7:87,035,709 | G/A | — | conflicting classifications of pathogenicity |
| rs2546746541 | 7:87,035,715 | G/A | — | likely benign |
| rs886062459 | 7:87,035,718 | G/A | — | conflicting classifications of pathogenicity |
| rs886044199 | 7:87,035,719 | C/T | — | uncertain significance |
| rs866301089 | 7:87,035,723 | C/T | — | uncertain significance |
| rs2546746620 | 7:87,035,740 | T/C | — | uncertain significance |
| rs148279875 | 7:87,035,741 | G/A | — | pathogenic |
| rs373338470 | 7:87,035,743 | G/C | — | uncertain significance |
| rs1808198989 | 7:87,035,748 | G/A | — | likely benign |
| rs1282338773 | 7:87,035,753 | C/T | — | uncertain significance |
| rs756982751 | 7:87,035,754 | G/A | — | likely benign |
| rs886044706 | 7:87,035,756 | G/C | — | uncertain significance |
| rs757931203 | 7:87,035,764 | C/T | — | conflicting classifications of pathogenicity |
| rs746507472 | 7:87,035,775 | G/A | — | likely benign |
| rs1358779693 | 7:87,035,781 | G/T | — | likely benign |
| rs1808202820 | 7:87,035,782 | A/C | — | uncertain significance |
| rs1439704366 | 7:87,035,791 | G/A | — | uncertain significance |
| rs31655 | 7:87,035,792 | C/T | — | uncertain significance |
| rs139042803 | 7:87,035,794 | T/C | — | conflicting classifications of pathogenicity |
Showing 100 of 792 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.