PNPLA3
patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase
Summary
The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]
Known Variants156 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1475474278 | 22:44,319,612 | C/T | — | uncertain significance |
| rs140746182 | 22:44,319,624 | C/A | — | likely benign |
| rs2049901194 | 22:44,319,661 | C/G | — | uncertain significance |
| rs531789428 | 22:44,319,680 | A/T | — | likely benign |
| rs548897706 | 22:44,319,681 | G/A | — | likely benign |
| rs2049901492 | 22:44,319,684 | T/C | — | uncertain significance |
| rs916837240 | 22:44,319,723 | T/C | — | uncertain significance |
| rs773713393 | 22:44,319,748 | C/G | — | uncertain significance |
| rs144821153 | 22:44,319,752 | C/G | — | likely benign |
| rs771554231 | 22:44,319,807 | C/G | — | uncertain significance |
| rs375838646 | 22:44,319,818 | C/T | — | likely benign |
| rs1233022871 | 22:44,319,842 | C/T | — | likely benign |
| rs756992028 | 22:44,319,870 | C/G | — | uncertain significance |
| rs2049903797 | 22:44,319,873 | T/C | — | uncertain significance |
| rs747966884 | 22:44,319,897 | C/A | — | uncertain significance |
| rs763186149 | 22:44,319,906 | G/T | — | uncertain significance |
| rs558343052 | 22:44,319,915 | A/G | — | uncertain significance |
| rs569064196 | 22:44,319,916 | T/G | — | uncertain significance |
| rs753144787 | 22:44,319,920 | G/T | — | likely benign |
| rs1339952258 | 22:44,319,927 | G/T | — | uncertain significance |
| rs747663733 | 22:44,319,943 | T/C | — | uncertain significance |
| rs769497493 | 22:44,319,971 | C/G | — | uncertain significance |
| rs116795637 | 22:44,319,990 | G/A | — | benign |
| rs2049926830 | 22:44,322,841 | C/G | — | uncertain significance |
| rs147412464 | 22:44,322,843 | T/C | — | likely benign |
| rs137916527 | 22:44,322,848 | G/A | — | uncertain significance |
| rs746140741 | 22:44,322,853 | G/A | — | uncertain significance |
| rs200528261 | 22:44,322,862 | C/T | — | uncertain significance |
| rs768547361 | 22:44,322,863 | G/A | — | uncertain significance |
| rs370909367 | 22:44,322,876 | C/T | — | likely benign |
| rs767321890 | 22:44,322,911 | G/A | — | uncertain significance |
| rs2076213 | 22:44,322,922 | G/T | — | uncertain significance |
| rs747155219 | 22:44,322,929 | G/A | — | likely benign |
| rs79118505 | 22:44,322,936 | G/A | — | likely benign |
| rs2076212 | 22:44,322,970 | T/G | — | benign |
| rs142353105 | 22:44,322,999 | G/C | — | likely benign |
| rs375342777 | 22:44,323,024 | C/T | — | uncertain significance |
| rs749773774 | 22:44,323,033 | G/C | — | uncertain significance |
| rs768191646 | 22:44,323,041 | C/T | — | uncertain significance |
| rs738407 | 22:44,323,955 | T/G | — | — |
| rs139051 | 22:44,324,676 | A/G | regulatory region variant | — |
| rs738409 | 22:44,324,727 | C/G | missense variant | pathogenic |
| rs738408 | 22:44,324,730 | C/T | synonymous variant | benign |
| rs141106484 | 22:44,324,767 | G/A | — | uncertain significance |
| rs3747207 | 22:44,324,855 | G/C | — | — |
| rs12485100 | 22:44,325,516 | G/T | intron variant | — |
| rs12484801 | 22:44,325,565 | C/T | intron variant | — |
| rs12484809 | 22:44,325,631 | C/T | intron variant | — |
| rs12483959 | 22:44,325,996 | G/A | intron variant | — |
| rs9625962 | 22:44,326,272 | T/C | intron variant | — |
| rs11090617 | 22:44,326,700 | C/G | — | — |
| rs16991158 | 22:44,327,179 | G/A | intron variant | — |
| rs36055245 | 22:44,327,192 | A/G | intron variant | — |
| rs1339511121 | 22:44,328,765 | T/C | — | uncertain significance |
| rs377410768 | 22:44,328,788 | G/A | — | likely benign |
| rs762068780 | 22:44,328,827 | C/T | — | uncertain significance |
| rs148866299 | 22:44,328,828 | C/A | — | uncertain significance |
| rs34179073 | 22:44,328,832 | T/C | — | benign |
| rs1456235776 | 22:44,328,869 | A/G | — | uncertain significance |
| rs190477302 | 22:44,328,870 | C/T | — | uncertain significance |
| rs2049971622 | 22:44,328,888 | A/C | — | uncertain significance |
| rs35726887 | 22:44,328,917 | A/C | — | uncertain significance |
| rs143392071 | 22:44,328,930 | A/G | — | likely benign |
| rs115531341 | 22:44,328,950 | G/A | — | benign |
| rs780919312 | 22:44,328,957 | C/T | — | uncertain significance |
| rs185208551 | 22:44,328,979 | G/A | — | uncertain significance |
| rs2294433 | 22:44,329,275 | G/T | — | — |
| rs1977080 | 22:44,330,031 | C/G | — | — |
| rs12484466 | 22:44,330,213 | A/G | — | — |
| rs148469440 | 22:44,330,481 | C/A | — | uncertain significance |
| rs375286131 | 22:44,330,482 | A/T | — | uncertain significance |
| rs202103609 | 22:44,330,500 | A/G | — | uncertain significance |
| rs145757370 | 22:44,330,538 | A/G | — | uncertain significance |
| rs13056638 | 22:44,331,778 | C/G | intron variant | — |
| rs1883348 | 22:44,331,815 | C/G | intron variant | — |
| rs1883349 | 22:44,331,943 | G/A | intron variant | — |
| rs2281138 | 22:44,332,477 | T/C | intron variant | — |
| rs2281137 | 22:44,332,493 | T/C | intron variant | — |
| rs2281135 | 22:44,332,570 | G/A | intron variant | — |
| rs2072907 | 22:44,332,653 | C/G | intron variant | — |
| rs34879941 | 22:44,332,878 | C/G | — | — |
| rs78730442 | 22:44,332,974 | A/C | — | likely benign |
| rs778267335 | 22:44,333,035 | G/A | — | likely benign |
| rs1346533054 | 22:44,333,058 | G/T | — | uncertain significance |
| rs372749129 | 22:44,333,090 | G/A | — | uncertain significance |
| rs144746549 | 22:44,333,102 | T/G | — | uncertain significance |
| rs2050001627 | 22:44,333,123 | T/A | — | uncertain significance |
| rs2041689464 | 22:44,333,126 | A/T | — | uncertain significance |
| rs116679026 | 22:44,333,145 | C/T | — | likely benign |
| rs2072906 | 22:44,333,172 | A/G | intron variant | — |
| rs2896019 | 22:44,333,694 | T/G | intron variant | — |
| rs2401512 | 22:44,333,945 | C/T | — | — |
| rs2896020 | 22:44,333,968 | T/C | intron variant | — |
| rs4823176 | 22:44,334,476 | T/C | intron variant | — |
| rs4823177 | 22:44,334,486 | T/G | — | — |
| rs4823178 | 22:44,334,529 | T/C | intron variant | — |
| rs2281293 | 22:44,334,842 | T/C | intron variant | — |
| rs16991175 | 22:44,335,331 | T/C | intron variant | — |
| rs35621602 | 22:44,335,406 | C/A | intron variant | — |
| rs34352134 | 22:44,335,416 | C/A | — | — |
Showing 100 of 156 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.