AGPAT3
1-acylglycerol-3-phosphate O-acyltransferase 3
Summary
The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs551793526 | 21:45,284,508 | C/A | — | — |
| rs555746939 | 21:45,288,467 | G/A | — | — |
| rs558637582 | 21:45,317,337 | C/T | — | — |
| rs572362395 | 21:45,323,926 | C/T | — | — |
| rs557368807 | 21:45,346,558 | G/C | — | — |
| rs531366603 | 21:45,355,569 | G/A | — | — |
| rs189891713 | 21:45,356,895 | T/G | regulatory region variant | — |
| rs138043916 | 21:45,368,239 | C/T | intron variant | — |
| rs199574111 | 21:45,379,232 | A/G | — | — |
| rs148497398 | 21:45,379,595 | C/T | — | benign |
| rs762855528 | 21:45,379,596 | G/A | — | uncertain significance |
| rs768508437 | 21:45,379,695 | C/G | — | uncertain significance |
| rs201739855 | 21:45,379,716 | C/T | — | uncertain significance |
| rs1053673813 | 21:45,387,985 | G/A | — | uncertain significance |
| rs117033927 | 21:45,388,003 | G/A | — | likely benign |
| rs146737372 | 21:45,389,013 | C/A | — | likely benign |
| rs1433457216 | 21:45,389,054 | C/T | — | uncertain significance |
| rs368657540 | 21:45,389,105 | G/A | — | uncertain significance |
| rs748344675 | 21:45,389,131 | C/T | — | uncertain significance |
| rs962293850 | 21:45,389,132 | G/A | — | uncertain significance |
| rs747425990 | 21:45,389,149 | G/A | — | uncertain significance |
| rs1141627 | 21:45,390,557 | G/A | — | likely benign |
| rs370780500 | 21:45,391,271 | G/A | — | uncertain significance |
| rs754101750 | 21:45,391,310 | A/C | — | uncertain significance |
| rs780787175 | 21:45,391,351 | C/A | — | pathogenic |
| rs185100699 | 21:45,396,376 | C/T | intron variant | — |
| rs1362183128 | 21:45,400,939 | C/G | — | uncertain significance |
| rs758583005 | 21:45,402,243 | C/T | — | likely benign |
| rs7435 | 21:45,404,338 | A/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.