SERPINA3
serpin family A member 3
Summary
The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. Polymorphisms in this protein appear to be tissue specific and influence protease targeting. Variations in this protein's sequence have been implicated in Alzheimer's disease, and deficiency of this protein has been associated with liver disease. Mutations have been identified in patients with Parkinson disease and chronic obstructive pulmonary disease. [provided by RefSeq, Jun 2020]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1884082 | 14:95,078,677 | G/T | regulatory region variant | — |
| rs45481092 | 14:95,078,744 | G/A | regulatory region variant | — |
| rs61976121 | 14:95,079,700 | G/A | regulatory region variant | — |
| rs140739148 | 14:95,080,724 | G/A | 5 prime UTR variant | — |
| rs144870571 | 14:95,080,773 | T/C | — | likely benign |
| rs138583013 | 14:95,080,795 | C/T | — | uncertain significance |
| rs4934 | 14:95,080,803 | G/A | missense variant | benign |
| rs79181968 | 14:95,080,814 | T/C | — | likely benign |
| rs149527088 | 14:95,080,848 | C/T | — | likely benign |
| rs144060757 | 14:95,080,851 | C/T | — | conflicting classifications of pathogenicity |
| rs752346883 | 14:95,080,911 | G/A | — | uncertain significance |
| rs201175080 | 14:95,080,919 | C/T | — | likely benign |
| rs2503741291 | 14:95,080,930 | C/A | — | uncertain significance |
| rs188602956 | 14:95,080,932 | G/A | — | likely benign |
| rs780159884 | 14:95,080,936 | A/G | — | uncertain significance |
| rs61737406 | 14:95,080,955 | C/T | — | benign |
| rs1595094297 | 14:95,080,964 | G/A | — | likely benign |
| rs2503741514 | 14:95,080,972 | T/G | — | uncertain significance |
| rs1800463 | 14:95,081,011 | T/C | missense variant | pathogenic |
| rs199923400 | 14:95,081,025 | G/T | — | uncertain significance |
| rs61737405 | 14:95,081,036 | C/T | — | benign |
| rs17826465 | 14:95,081,081 | G/A | — | benign |
| rs375245228 | 14:95,081,101 | C/T | — | uncertain significance |
| rs140011518 | 14:95,081,141 | C/T | — | likely benign |
| rs116880457 | 14:95,081,148 | C/G | — | uncertain significance |
| rs777232494 | 14:95,081,149 | G/A | — | uncertain significance |
| rs145819878 | 14:95,081,158 | A/G | — | uncertain significance |
| rs1047504135 | 14:95,081,185 | G/A | — | likely benign |
| rs747878301 | 14:95,081,187 | A/G | — | likely benign |
| rs1016947067 | 14:95,081,248 | C/T | — | uncertain significance |
| rs566778767 | 14:95,081,260 | A/G | — | uncertain significance |
| rs754963974 | 14:95,081,268 | G/A | — | uncertain significance |
| rs542255755 | 14:95,081,328 | G/A | — | uncertain significance |
| rs1375667847 | 14:95,081,347 | G/T | — | uncertain significance |
| rs757020810 | 14:95,081,348 | G/A | — | likely benign |
| rs9323909 | 14:95,081,381 | G/A | — | benign |
| rs974361600 | 14:95,081,388 | A/G | — | likely benign |
| rs1886106284 | 14:95,085,582 | T/G | — | uncertain significance |
| rs76970295 | 14:95,085,598 | A/G | — | likely benign |
| rs140884476 | 14:95,085,612 | C/A | — | uncertain significance |
| rs17473 | 14:95,085,642 | C/G | missense variant | pathogenic |
| rs2503754561 | 14:95,085,645 | T/G | — | uncertain significance |
| rs1319307412 | 14:95,085,667 | C/T | — | uncertain significance |
| rs573366685 | 14:95,085,674 | C/A | — | likely benign |
| rs113864331 | 14:95,085,686 | A/G | — | benign |
| rs61737404 | 14:95,085,707 | T/C | — | benign |
| rs144237088 | 14:95,085,708 | G/A | — | uncertain significance |
| rs112967031 | 14:95,085,710 | A/C | — | benign |
| rs148556633 | 14:95,085,758 | G/T | — | likely benign |
| rs139747783 | 14:95,085,781 | G/A | — | conflicting classifications of pathogenicity |
| rs192724937 | 14:95,087,368 | A/T | intron variant | — |
| rs910351 | 14:95,088,070 | G/A | intron variant | — |
| rs151198301 | 14:95,088,669 | G/A | — | likely benign |
| rs763100408 | 14:95,088,686 | G/A | — | likely benign |
| rs1227830345 | 14:95,088,717 | G/A | — | likely benign |
| rs200519805 | 14:95,088,757 | A/C | — | uncertain significance |
| rs1886236068 | 14:95,088,774 | C/T | — | likely benign |
| rs1802958 | 14:95,088,801 | G/A | — | benign |
| rs17091162 | 14:95,089,232 | C/A | intron variant | — |
| rs2503769863 | 14:95,089,967 | T/A | — | uncertain significance |
| rs1474392330 | 14:95,089,999 | G/A | — | uncertain significance |
| rs377262300 | 14:95,090,060 | G/A | — | uncertain significance |
| rs116929575 | 14:95,090,119 | A/G | missense variant | pathogenic |
| rs774521930 | 14:95,090,124 | C/A | — | uncertain significance |
| rs1886295470 | 14:95,090,133 | C/G | — | likely benign |
| rs144319070 | 14:95,090,158 | C/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.