ABHD5
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Summary
The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
Known Variants273 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77453551 | 3:43,732,186 | A/T | — | likely benign |
| rs79739454 | 3:43,732,191 | T/A | — | likely benign |
| rs79436573 | 3:43,732,237 | C/T | — | likely benign |
| rs116844757 | 3:43,732,243 | G/A | — | likely benign |
| rs182329157 | 3:43,732,315 | G/A | — | likely benign |
| rs74845403 | 3:43,732,371 | A/G | — | likely benign |
| rs886058486 | 3:43,732,387 | C/A | — | uncertain significance |
| rs886058487 | 3:43,732,394 | C/G | — | uncertain significance |
| rs561357404 | 3:43,732,417 | C/G | — | uncertain significance |
| rs186175534 | 3:43,732,420 | G/C | — | uncertain significance |
| rs564192984 | 3:43,732,421 | G/A | — | uncertain significance |
| rs372014366 | 3:43,732,437 | C/T | — | uncertain significance |
| rs367627114 | 3:43,732,455 | A/G | — | uncertain significance |
| rs189850893 | 3:43,732,461 | C/T | — | uncertain significance |
| rs117630969 | 3:43,732,466 | C/T | — | benign |
| rs751484346 | 3:43,732,490 | G/A | — | likely benign |
| rs138400599 | 3:43,732,495 | A/C | — | conflicting classifications of pathogenicity |
| rs141365045 | 3:43,732,496 | G/A | — | benign |
| rs2149587411 | 3:43,732,497 | G/A | — | uncertain significance |
| rs757473420 | 3:43,732,498 | A/C | — | uncertain significance |
| rs1553614642 | 3:43,732,500 | G/T | — | pathogenic |
| rs104893676 | 3:43,732,503 | G/A | missense variant | pathogenic |
| rs780461803 | 3:43,732,505 | G/A | — | likely benign |
| rs2084364546 | 3:43,732,509 | G/T | — | uncertain significance |
| rs144420157 | 3:43,732,510 | A/G | — | conflicting classifications of pathogenicity |
| rs145281193 | 3:43,732,512 | T/A | — | uncertain significance |
| rs762881363 | 3:43,732,517 | C/T | — | likely benign |
| rs1196204973 | 3:43,732,518 | G/A | — | uncertain significance |
| rs202004711 | 3:43,732,520 | C/T | — | likely benign |
| rs140969259 | 3:43,732,523 | C/T | — | likely benign |
| rs773970748 | 3:43,732,524 | G/C | — | uncertain significance |
| rs761863848 | 3:43,732,527 | G/A | — | uncertain significance |
| rs2528681769 | 3:43,732,528 | A/G | — | uncertain significance |
| rs758577205 | 3:43,732,537 | C/A | — | uncertain significance |
| rs375014954 | 3:43,732,541 | G/A | — | likely benign |
| rs368902140 | 3:43,732,544 | G/A | — | likely benign |
| rs777382118 | 3:43,732,550 | G/C | — | likely benign |
| rs1285123105 | 3:43,732,551 | G/C | — | likely benign |
| rs6794697 | 3:43,732,590 | G/A | — | benign |
| rs34236746 | 3:43,740,565 | C/T | — | likely benign |
| rs2528724392 | 3:43,740,748 | T/C | — | likely benign |
| rs1490341068 | 3:43,740,762 | C/T | — | likely benign |
| rs183345998 | 3:43,740,764 | C/G | — | conflicting classifications of pathogenicity |
| rs1378725778 | 3:43,740,783 | T/C | — | likely benign |
| rs527728901 | 3:43,740,786 | T/C | — | benign |
| rs773350263 | 3:43,740,790 | C/T | — | uncertain significance |
| rs138443653 | 3:43,740,807 | T/C | — | likely benign |
| rs1391492123 | 3:43,740,809 | C/T | — | uncertain significance |
| rs144312381 | 3:43,740,810 | G/A | — | likely benign |
| rs104893675 | 3:43,740,818 | C/G | stop gained | pathogenic |
| rs2084511795 | 3:43,740,853 | T/A | — | uncertain significance |
| rs2528725105 | 3:43,740,854 | G/A | — | likely pathogenic |
| rs764691568 | 3:43,740,859 | G/A | — | uncertain significance |
| rs756696438 | 3:43,740,873 | A/G | — | likely benign |
| rs1468602 | 3:43,742,734 | T/C | intron variant | — |
| rs9862268 | 3:43,743,510 | C/A | — | benign |
| rs2528736349 | 3:43,743,696 | G/C | — | likely benign |
| rs1575600969 | 3:43,743,705 | A/G | — | pathogenic |
| rs2528736421 | 3:43,743,713 | C/T | — | uncertain significance |
| rs141184431 | 3:43,743,718 | A/G | — | uncertain significance |
| rs2528736541 | 3:43,743,735 | T/A | — | likely benign |
| rs757742884 | 3:43,743,740 | G/A | — | uncertain significance |
| rs2528736572 | 3:43,743,742 | A/G | — | uncertain significance |
| rs779669249 | 3:43,743,768 | A/G | — | likely benign |
| rs200927822 | 3:43,743,774 | G/C | — | uncertain significance |
| rs115209685 | 3:43,743,775 | T/C | — | benign |
| rs2302349 | 3:43,743,788 | T/C | — | likely benign |
| rs147218153 | 3:43,743,794 | A/G | — | uncertain significance |
| rs377718797 | 3:43,743,801 | T/G | — | conflicting classifications of pathogenicity |
| rs537368660 | 3:43,743,831 | A/C | — | conflicting classifications of pathogenicity |
| rs1042260491 | 3:43,743,835 | C/G | — | uncertain significance |
| rs749965827 | 3:43,743,855 | T/C | — | likely benign |
| rs1285224331 | 3:43,743,864 | T/C | — | likely benign |
| rs1317240749 | 3:43,743,868 | T/G | — | uncertain significance |
| rs1283756417 | 3:43,743,872 | C/G | — | uncertain significance |
| rs148750021 | 3:43,743,873 | C/G | — | likely benign |
| rs1000849111 | 3:43,743,887 | A/G | — | uncertain significance |
| rs536642005 | 3:43,743,897 | C/T | — | likely benign |
| rs754576816 | 3:43,743,900 | A/G | — | likely benign |
| rs780866502 | 3:43,743,901 | T/C | — | likely benign |
| rs2084553611 | 3:43,743,910 | G/A | — | uncertain significance |
| rs752473449 | 3:43,743,913 | C/T | — | pathogenic |
| rs148743497 | 3:43,743,914 | T/G | — | likely benign |
| rs1559412343 | 3:43,743,917 | G/A | — | uncertain significance |
| rs777749420 | 3:43,743,918 | T/C | — | uncertain significance |
| rs573378765 | 3:43,743,925 | C/A | — | uncertain significance |
| rs371138384 | 3:43,743,935 | A/T | — | uncertain significance |
| rs1210999708 | 3:43,743,952 | G/A | — | uncertain significance |
| rs777375929 | 3:43,743,959 | A/G | — | uncertain significance |
| rs28939077 | 3:43,743,962 | A/C | missense variant | pathogenic |
| rs373148191 | 3:43,743,969 | G/A | — | likely benign |
| rs200595589 | 3:43,743,972 | A/C | — | uncertain significance |
| rs765897182 | 3:43,743,976 | A/G | — | uncertain significance |
| rs962581009 | 3:43,743,984 | G/A | — | likely benign |
| rs1282035088 | 3:43,743,985 | T/C | — | uncertain significance |
| rs2084555727 | 3:43,743,991 | T/G | — | uncertain significance |
| rs767197048 | 3:43,744,003 | T/C | — | conflicting classifications of pathogenicity |
| rs752495601 | 3:43,744,005 | G/A | — | likely benign |
| rs777609553 | 3:43,744,015 | A/T | — | uncertain significance |
| rs753853386 | 3:43,744,017 | C/T | — | conflicting classifications of pathogenicity |
Showing 100 of 273 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.