MBOAT7
membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7
Summary
This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
Known Variants107 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs641738 | 19:54,676,763 | C/T | missense variant | — |
| rs626283 | 19:54,677,001 | G/C | regulatory region variant | — |
| rs8736 | 19:54,677,189 | C/G | — | — |
| rs1431689941 | 19:54,677,742 | T/C | — | uncertain significance |
| rs753504958 | 19:54,677,749 | G/A | — | uncertain significance |
| rs2515029983 | 19:54,677,753 | C/A | — | uncertain significance |
| rs754722210 | 19:54,677,754 | T/A | — | uncertain significance |
| rs761850542 | 19:54,677,755 | T/G | — | uncertain significance |
| rs1458786542 | 19:54,677,757 | T/C | — | uncertain significance |
| rs187952084 | 19:54,677,785 | C/A | — | uncertain significance |
| rs774928119 | 19:54,677,791 | T/C | — | uncertain significance |
| rs79199039 | 19:54,677,793 | C/T | — | likely benign |
| rs142954889 | 19:54,677,794 | G/A | — | uncertain significance |
| rs759231014 | 19:54,677,796 | C/T | — | uncertain significance |
| rs2515033640 | 19:54,677,807 | G/T | — | likely benign |
| rs372936043 | 19:54,677,832 | C/A | — | uncertain significance |
| rs774674992 | 19:54,677,864 | G/T | — | uncertain significance |
| rs2515037913 | 19:54,677,867 | G/T | — | likely pathogenic |
| rs10416555 | 19:54,677,897 | A/G | — | benign |
| rs35909464 | 19:54,677,914 | C/T | — | uncertain significance |
| rs556354713 | 19:54,677,928 | A/G | — | uncertain significance |
| rs1568770207 | 19:54,677,937 | T/C | — | uncertain significance |
| rs745322441 | 19:54,677,941 | C/A | — | uncertain significance |
| rs201813053 | 19:54,677,943 | C/T | — | uncertain significance |
| rs2076008543 | 19:54,677,961 | T/G | — | uncertain significance |
| rs915235935 | 19:54,677,992 | G/A | — | uncertain significance |
| rs545959971 | 19:54,678,006 | C/T | — | uncertain significance |
| rs201012145 | 19:54,678,024 | C/T | — | conflicting classifications of pathogenicity |
| rs144021940 | 19:54,678,025 | G/A | — | uncertain significance |
| rs758805684 | 19:54,678,031 | C/T | — | uncertain significance |
| rs372024006 | 19:54,678,041 | G/T | — | likely pathogenic |
| rs2076017638 | 19:54,678,095 | G/T | — | pathogenic |
| rs1600619113 | 19:54,678,120 | G/A | — | uncertain significance |
| rs62132544 | 19:54,678,885 | G/A | upstream gene variant | — |
| rs1034934225 | 19:54,682,465 | T/C | — | uncertain significance |
| rs761899500 | 19:54,682,482 | C/T | — | uncertain significance |
| rs200105516 | 19:54,682,483 | G/A | — | uncertain significance |
| rs761264534 | 19:54,682,497 | C/T | — | uncertain significance |
| rs202020450 | 19:54,682,507 | C/T | — | uncertain significance |
| rs1298644481 | 19:54,682,524 | T/C | — | uncertain significance |
| rs139499369 | 19:54,682,545 | G/A | — | uncertain significance |
| rs763676201 | 19:54,682,560 | C/T | — | uncertain significance |
| rs373319764 | 19:54,682,570 | C/T | — | uncertain significance |
| rs377603361 | 19:54,682,572 | C/T | — | uncertain significance |
| rs2076188195 | 19:54,682,576 | C/A | — | uncertain significance |
| rs748238566 | 19:54,682,578 | C/T | — | uncertain significance |
| rs2515146944 | 19:54,682,581 | A/C | — | uncertain significance |
| rs369198461 | 19:54,682,582 | C/T | — | uncertain significance |
| rs149699444 | 19:54,682,583 | G/A | — | likely benign |
| rs2515147126 | 19:54,682,584 | C/T | — | uncertain significance |
| rs557746011 | 19:54,682,606 | C/T | — | uncertain significance |
| rs146777664 | 19:54,682,628 | G/A | — | likely benign |
| rs757489929 | 19:54,682,656 | G/C | — | uncertain significance |
| rs2076192966 | 19:54,682,660 | T/C | — | likely pathogenic |
| rs142016805 | 19:54,682,996 | C/T | intron variant | — |
| rs751520193 | 19:54,684,482 | C/T | — | uncertain significance |
| rs368650520 | 19:54,684,483 | G/A | — | likely benign |
| rs886041060 | 19:54,684,489 | C/G | — | pathogenic |
| rs767593470 | 19:54,684,495 | G/C | — | uncertain significance |
| rs1055465093 | 19:54,684,497 | G/C | — | uncertain significance |
| rs1600650924 | 19:54,684,501 | T/G | — | likely benign |
| rs886041061 | 19:54,684,518 | — | — | pathogenic |
| rs756299945 | 19:54,684,521 | C/T | — | uncertain significance |
| rs755319900 | 19:54,684,532 | C/T | — | uncertain significance |
| rs2515176191 | 19:54,684,537 | T/G | — | uncertain significance |
| rs2515176524 | 19:54,684,547 | A/C | — | uncertain significance |
| rs554078016 | 19:54,684,549 | G/A | — | likely benign |
| rs761791932 | 19:54,684,581 | C/T | — | uncertain significance |
| rs773274817 | 19:54,684,583 | C/T | — | uncertain significance |
| rs868498080 | 19:54,684,587 | C/T | — | likely pathogenic |
| rs372916774 | 19:54,684,588 | G/A | — | likely benign |
| rs766679693 | 19:54,684,590 | C/T | — | uncertain significance |
| rs755372797 | 19:54,684,602 | C/T | — | uncertain significance |
| rs753220219 | 19:54,684,616 | A/G | — | uncertain significance |
| rs530531478 | 19:54,684,619 | C/T | — | uncertain significance |
| rs371452356 | 19:54,684,626 | C/A | — | uncertain significance |
| rs544377469 | 19:54,684,646 | T/C | — | uncertain significance |
| rs529954463 | 19:54,684,666 | C/T | — | likely benign |
| rs763217778 | 19:54,684,683 | C/T | — | uncertain significance |
| rs755683540 | 19:54,684,690 | G/C | — | likely benign |
| rs185682596 | 19:54,684,691 | C/G | — | conflicting classifications of pathogenicity |
| rs368727348 | 19:54,684,740 | C/G | — | uncertain significance |
| rs2076255457 | 19:54,684,773 | G/A | — | likely benign |
| rs1417113738 | 19:54,684,776 | G/A | — | uncertain significance |
| rs752132040 | 19:54,684,779 | G/A | — | uncertain significance |
| rs754522503 | 19:54,684,798 | G/A | — | likely benign |
| rs777379271 | 19:54,684,828 | G/C | — | likely benign |
| rs1162370234 | 19:54,684,838 | C/T | — | uncertain significance |
| rs1233952774 | 19:54,684,847 | G/A | — | uncertain significance |
| rs746001095 | 19:54,684,853 | G/A | — | likely benign |
| rs773882539 | 19:54,687,465 | G/A | — | likely benign |
| rs755980243 | 19:54,687,502 | G/A | — | uncertain significance |
| rs254281 | 19:54,689,323 | G/T | — | — |
| rs138088656 | 19:54,691,024 | G/T | upstream gene variant | — |
| rs746338307 | 19:54,691,090 | T/C | — | uncertain significance |
| rs2076453599 | 19:54,691,117 | G/A | — | conflicting classifications of pathogenicity |
| rs1865961 | 19:54,691,225 | T/G | — | — |
| rs2076508722 | 19:54,692,078 | G/A | — | likely pathogenic |
| rs1028916397 | 19:54,692,092 | G/A | — | uncertain significance |
| rs1036844220 | 19:54,692,105 | G/T | — | uncertain significance |
Showing 100 of 107 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.