PON3
paraoxonase 3
Summary
This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [provided by RefSeq, Jul 2008]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201745303 | 7:94,989,318 | G/A | — | benign |
| rs139856535 | 7:94,989,379 | C/T | — | benign |
| rs374135902 | 7:94,989,411 | C/G | — | uncertain significance |
| rs201661676 | 7:94,989,434 | T/A | — | uncertain significance |
| rs1206094219 | 7:94,989,437 | G/A | — | uncertain significance |
| rs376906816 | 7:94,989,448 | C/T | — | likely benign |
| rs2074352 | 7:94,989,673 | C/T | — | benign |
| rs17884000 | 7:94,991,632 | T/C | — | benign |
| rs562802967 | 7:94,991,729 | T/A | — | uncertain significance |
| rs145245780 | 7:94,991,764 | G/A | — | likely benign |
| rs138667127 | 7:94,992,064 | A/G | — | benign |
| rs767647372 | 7:94,992,076 | A/T | — | uncertain significance |
| rs142620825 | 7:94,992,109 | A/G | — | uncertain significance |
| rs10953143 | 7:94,992,244 | T/C | — | benign |
| rs2074353 | 7:94,992,908 | G/A | — | benign |
| rs1808632586 | 7:94,993,178 | T/C | — | uncertain significance |
| rs751009929 | 7:94,993,194 | T/C | — | uncertain significance |
| rs17880470 | 7:94,993,261 | A/G | — | likely benign |
| rs763562011 | 7:94,993,314 | T/A | — | uncertain significance |
| rs17883013 | 7:94,993,334 | G/T | — | benign |
| rs201544566 | 7:94,993,374 | C/T | — | uncertain significance |
| rs192820208 | 7:94,994,064 | C/T | intron variant | — |
| rs147595310 | 7:94,995,226 | G/C | intron variant | — |
| rs771269467 | 7:94,996,726 | G/T | — | uncertain significance |
| rs774766276 | 7:94,996,727 | T/A | — | uncertain significance |
| rs17878827 | 7:94,996,732 | C/T | — | benign |
| rs141350740 | 7:94,996,741 | A/G | — | benign |
| rs137988495 | 7:94,996,760 | C/A | — | uncertain significance |
| rs2494843700 | 7:94,996,762 | T/C | — | uncertain significance |
| rs764997002 | 7:94,996,780 | C/T | — | uncertain significance |
| rs3757708 | 7:94,996,913 | T/G | — | benign |
| rs192158082 | 7:94,999,190 | G/C | intron variant | — |
| rs2375002 | 7:95,001,358 | T/A | — | benign |
| rs1314959925 | 7:95,001,545 | T/G | — | uncertain significance |
| rs1053275 | 7:95,001,555 | C/T | — | benign |
| rs561570115 | 7:95,001,585 | A/C | — | uncertain significance |
| rs377390399 | 7:95,001,618 | C/A | — | likely benign |
| rs565869599 | 7:95,002,120 | T/C | — | — |
| rs578141133 | 7:95,003,741 | C/T | — | — |
| rs545646281 | 7:95,006,256 | G/A | — | — |
| rs184036962 | 7:95,012,768 | A/C | intron variant | — |
| rs6977389 | 7:95,019,355 | G/A | — | benign |
| rs566336494 | 7:95,019,489 | T/C | — | uncertain significance |
| rs749382548 | 7:95,019,512 | G/A | — | uncertain significance |
| rs10487132 | 7:95,020,305 | A/G | intron variant | — |
| rs740264 | 7:95,021,803 | T/G | intron variant | — |
| rs146643759 | 7:95,022,649 | A/G | intron variant | — |
| rs183892429 | 7:95,023,483 | A/T | intron variant | — |
| rs145903596 | 7:95,023,794 | G/C | intron variant | — |
| rs1210423464 | 7:95,023,994 | G/A | — | uncertain significance |
| rs147006695 | 7:95,024,007 | G/A | — | conflicting classifications of pathogenicity |
| rs139790227 | 7:95,024,017 | C/T | — | likely benign |
| rs11970910 | 7:95,024,046 | A/G | — | benign |
| rs2072199 | 7:95,025,453 | A/G | — | benign |
| rs752552219 | 7:95,025,593 | A/T | — | uncertain significance |
| rs13226149 | 7:95,025,600 | G/A | synonymous variant | benign |
| rs146627952 | 7:95,025,658 | C/T | — | likely benign |
| rs17882539 | 7:95,026,408 | G/A | upstream gene variant | — |
| rs11767787 | 7:95,026,753 | T/C | upstream gene variant | — |
| rs183573338 | 7:95,027,278 | T/C | upstream gene variant | — |
| rs187444103 | 7:95,027,430 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.