ABCG1
ATP binding cassette subfamily G member 1
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 White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1893590 | 21:43,619,595 | A/C | regulatory region variant | — |
| rs1378577 | 21:43,619,665 | T/A | — | — |
| rs200084430 | 21:43,621,797 | G/A | — | benign |
| rs544992785 | 21:43,621,807 | A/G | — | uncertain significance |
| rs2234714 | 21:43,638,617 | G/A | upstream gene variant | — |
| rs2234715 | 21:43,638,855 | A/G | regulatory region variant | — |
| rs57137919 | 21:43,639,018 | G/A | regulatory region variant | — |
| rs144415936 | 21:43,639,381 | T/C | — | benign |
| rs4148102 | 21:43,641,347 | G/A | coding sequence variant | — |
| rs144780823 | 21:43,645,809 | C/T | — | uncertain significance |
| rs778521666 | 21:43,645,844 | G/A | — | uncertain significance |
| rs766235564 | 21:43,645,875 | C/T | — | uncertain significance |
| rs141619254 | 21:43,645,876 | G/A | — | likely benign |
| rs763046609 | 21:43,645,921 | G/A | — | likely benign |
| rs4148108 | 21:43,646,028 | G/A | — | benign |
| rs4148112 | 21:43,650,776 | C/T | intron variant | — |
| rs2229411 | 21:43,691,232 | G/A | — | benign |
| rs1298264164 | 21:43,691,242 | A/C | — | uncertain significance |
| rs61735843 | 21:43,693,455 | C/G | — | benign |
| rs747985754 | 21:43,693,517 | C/T | — | uncertain significance |
| rs56145149 | 21:43,696,999 | T/C | — | benign |
| rs201037860 | 21:43,702,404 | G/A | — | likely benign |
| rs774196934 | 21:43,702,459 | C/T | — | uncertain significance |
| rs1294780786 | 21:43,702,460 | G/A | — | uncertain significance |
| rs377226245 | 21:43,704,670 | C/G | — | uncertain significance |
| rs150720995 | 21:43,704,706 | G/A | — | likely benign |
| rs760934588 | 21:43,706,017 | G/A | — | uncertain significance |
| rs776796182 | 21:43,706,024 | G/A | — | uncertain significance |
| rs766964836 | 21:43,706,080 | A/T | — | uncertain significance |
| rs3788007 | 21:43,706,776 | G/C | — | — |
| rs425215 | 21:43,707,101 | C/G | intron variant | — |
| rs56140811 | 21:43,708,018 | C/T | — | benign |
| rs1217159325 | 21:43,708,069 | G/A | — | uncertain significance |
| rs151254598 | 21:43,708,097 | G/A | — | benign |
| rs757151743 | 21:43,708,133 | C/T | — | uncertain significance |
| rs373885762 | 21:43,708,134 | G/A | — | uncertain significance |
| rs369893716 | 21:43,708,168 | A/C | — | uncertain significance |
| rs146483452 | 21:43,708,371 | G/A | — | likely benign |
| rs141061143 | 21:43,708,422 | G/A | — | likely benign |
| rs1304552863 | 21:43,710,175 | C/T | — | uncertain significance |
| rs138421137 | 21:43,710,279 | C/T | — | likely benign |
| rs61735842 | 21:43,710,303 | G/C | — | benign |
| rs143298194 | 21:43,711,291 | G/A | — | uncertain significance |
| rs139750767 | 21:43,711,754 | C/T | — | benign |
| rs752990354 | 21:43,714,664 | G/A | — | uncertain significance |
| rs139692028 | 21:43,714,720 | C/T | — | benign |
| rs2069167497 | 21:43,714,721 | G/A | — | uncertain significance |
| rs73364654 | 21:43,716,343 | C/T | — | likely benign |
| rs200531217 | 21:43,716,430 | C/T | — | likely benign |
| rs1044317 | 21:43,716,901 | A/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.