PCSK9
proprotein convertase subtilisin/kexin type 9
Summary
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Known Variants1,013 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11206510 | 1:55,496,039 | T/C | intergenic variant | association |
| rs2479409 | 1:55,504,650 | G/A | upstream gene variant | uncertain significance |
| rs886046425 | 1:55,505,158 | G/T | — | uncertain significance |
| rs886046426 | 1:55,505,165 | G/C | — | uncertain significance |
| rs778796405 | 1:55,505,180 | C/A | — | uncertain significance |
| rs1644581051 | 1:55,505,203 | A/G | — | uncertain significance |
| rs72658888 | 1:55,505,224 | G/A | — | likely benign |
| rs28362201 | 1:55,505,266 | G/T | — | conflicting classifications of pathogenicity |
| rs886046427 | 1:55,505,274 | T/G | — | uncertain significance |
| rs886046428 | 1:55,505,290 | T/G | — | uncertain significance |
| rs886046429 | 1:55,505,311 | C/A | — | uncertain significance |
| rs886046430 | 1:55,505,326 | A/G | — | uncertain significance |
| rs886046431 | 1:55,505,331 | T/G | — | uncertain significance |
| rs1553135350 | 1:55,505,343 | C/A | — | benign |
| rs574653669 | 1:55,505,371 | C/T | — | conflicting classifications of pathogenicity |
| rs886039835 | 1:55,505,438 | A/G | — | uncertain significance |
| rs1644583178 | 1:55,505,443 | C/T | — | uncertain significance |
| rs886039836 | 1:55,505,444 | C/A | — | uncertain significance |
| rs45448095 | 1:55,505,447 | T/C | — | benign |
| rs28362202 | 1:55,505,485 | G/A | — | likely benign |
| rs1341655436 | 1:55,505,501 | C/T | — | uncertain significance |
| rs1225046798 | 1:55,505,502 | C/T | — | likely benign |
| rs886039837 | 1:55,505,503 | T/C | — | conflicting classifications of pathogenicity |
| rs1644583955 | 1:55,505,504 | G/A | — | uncertain significance |
| rs1357021576 | 1:55,505,507 | C/A | — | uncertain significance |
| rs2523162572 | 1:55,505,508 | C/G | — | uncertain significance |
| rs1209186979 | 1:55,505,512 | T/G | — | uncertain significance |
| rs2523162641 | 1:55,505,514 | G/A | — | uncertain significance |
| rs1018576699 | 1:55,505,515 | G/A | — | uncertain significance |
| rs1644584021 | 1:55,505,516 | C/T | — | likely benign |
| rs966100677 | 1:55,505,518 | C/A | — | uncertain significance |
| rs1465865735 | 1:55,505,519 | C/T | — | likely benign |
| rs186669805 | 1:55,505,520 | G/A | — | conflicting classifications of pathogenicity |
| rs2523162767 | 1:55,505,522 | C/T | — | likely benign |
| rs1644584130 | 1:55,505,527 | C/T | — | uncertain significance |
| rs2100250570 | 1:55,505,531 | G/A | — | likely benign |
| rs1426361407 | 1:55,505,532 | C/T | — | uncertain significance |
| rs1021280547 | 1:55,505,533 | G/A | — | conflicting classifications of pathogenicity |
| rs562480265 | 1:55,505,537 | C/G | — | likely benign |
| rs968023760 | 1:55,505,544 | C/A | — | uncertain significance |
| rs760558712 | 1:55,505,545 | C/T | — | conflicting classifications of pathogenicity |
| rs1202453511 | 1:55,505,546 | G/A | — | likely benign |
| rs1644584325 | 1:55,505,550 | C/T | — | uncertain significance |
| rs1240458161 | 1:55,505,552 | A/G | — | likely benign |
| rs373295327 | 1:55,505,562 | C/T | — | likely benign |
| rs1322134519 | 1:55,505,563 | T/G | — | uncertain significance |
| rs1271212224 | 1:55,505,567 | G/C | — | likely benign |
| rs1644584917 | 1:55,505,575 | T/C | — | uncertain significance |
| rs926463199 | 1:55,505,576 | C/T | — | likely benign |
| rs1479030404 | 1:55,505,580 | G/A | — | uncertain significance |
| rs376819769 | 1:55,505,585 | C/T | — | likely benign |
| rs1553135400 | 1:55,505,586 | G/A | — | uncertain significance |
| rs1413443246 | 1:55,505,587 | C/T | — | uncertain significance |
| rs1644585207 | 1:55,505,588 | G/A | — | likely benign |
| rs1187613601 | 1:55,505,590 | G/C | — | uncertain significance |
| rs1288602841 | 1:55,505,591 | C/T | — | likely benign |
| rs547860327 | 1:55,505,592 | G/A | — | uncertain significance |
| rs1570290647 | 1:55,505,594 | C/T | — | likely benign |
| rs866597555 | 1:55,505,595 | C/G | — | uncertain significance |
| rs1160058809 | 1:55,505,596 | G/A | — | uncertain significance |
| rs958750957 | 1:55,505,599 | C/A | — | uncertain significance |
| rs1644585418 | 1:55,505,600 | G/A | — | likely benign |
| rs564427867 | 1:55,505,604 | G/A | missense variant | pathogenic |
| rs1291205662 | 1:55,505,606 | G/C | — | uncertain significance |
| rs917219621 | 1:55,505,607 | G/A | — | uncertain significance |
| rs371030381 | 1:55,505,610 | G/A | — | uncertain significance |
| rs764603059 | 1:55,505,613 | G/T | missense variant | pathogenic |
| rs533474523 | 1:55,505,615 | C/T | — | likely benign |
| rs757753730 | 1:55,505,616 | G/A | — | uncertain significance |
| rs1256244941 | 1:55,505,617 | G/A | — | uncertain significance |
| rs1482718750 | 1:55,505,618 | C/T | — | conflicting classifications of pathogenicity |
| rs1210705445 | 1:55,505,621 | C/A | — | uncertain significance |
| rs2523164477 | 1:55,505,623 | A/G | — | uncertain significance |
| rs2523164490 | 1:55,505,624 | C/T | — | likely benign |
| rs781590513 | 1:55,505,625 | G/A | — | uncertain significance |
| rs1416330878 | 1:55,505,628 | G/A | — | conflicting classifications of pathogenicity |
| rs2523164555 | 1:55,505,630 | G/A | — | likely benign |
| rs550263135 | 1:55,505,632 | T/A | — | uncertain significance |
| rs1644585765 | 1:55,505,633 | G/C | — | likely benign |
| rs374142123 | 1:55,505,636 | G/T | — | likely benign |
| rs1178309760 | 1:55,505,642 | C/T | — | likely benign |
| rs1190616189 | 1:55,505,645 | G/A | — | likely benign |
| rs747713772 | 1:55,505,646 | C/T | — | uncertain significance |
| rs11591147 | 1:55,505,647 | G/T | missense variant | pathogenic |
| rs2523164783 | 1:55,505,648 | T/G | — | likely benign |
| rs1372204035 | 1:55,505,650 | C/G | — | pathogenic |
| rs28385701 | 1:55,505,651 | C/T | — | conflicting classifications of pathogenicity |
| rs1278890129 | 1:55,505,652 | G/A | — | uncertain significance |
| rs747002272 | 1:55,505,657 | G/C | — | conflicting classifications of pathogenicity |
| rs2523164898 | 1:55,505,658 | G/C | — | uncertain significance |
| rs889289265 | 1:55,505,660 | C/T | — | likely benign |
| rs1346757467 | 1:55,505,661 | G/T | — | uncertain significance |
| rs1007223180 | 1:55,505,662 | G/A | — | uncertain significance |
| rs1056046410 | 1:55,505,664 | C/T | — | likely benign |
| rs1488157123 | 1:55,505,665 | T/C | — | uncertain significance |
| rs1231649101 | 1:55,505,666 | G/A | — | likely benign |
| rs11583680 | 1:55,505,668 | C/T | missense variant | likely benign |
| rs759214329 | 1:55,505,669 | C/T | — | likely benign |
| rs770080583 | 1:55,505,670 | G/A | — | uncertain significance |
| rs1644586582 | 1:55,505,674 | C/T | — | uncertain significance |
Showing 100 of 1,013 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.