PPL
periplakin
Summary
The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]
Known Variants229 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5013674 | 16:4,932,470 | G/A | regulatory region variant | — |
| rs554457564 | 16:4,933,402 | C/G | — | uncertain significance |
| rs116861592 | 16:4,933,409 | C/G | — | likely benign |
| rs151278541 | 16:4,933,417 | C/T | — | uncertain significance |
| rs757834411 | 16:4,933,478 | C/G | — | uncertain significance |
| rs760944645 | 16:4,933,545 | T/A | — | uncertain significance |
| rs149462976 | 16:4,933,574 | G/T | — | uncertain significance |
| rs1395990605 | 16:4,933,617 | A/G | — | uncertain significance |
| rs148607035 | 16:4,933,652 | C/T | — | likely benign |
| rs762138140 | 16:4,933,681 | C/G | — | uncertain significance |
| rs2506159088 | 16:4,933,686 | G/C | — | uncertain significance |
| rs758655130 | 16:4,933,716 | C/G | — | uncertain significance |
| rs748593430 | 16:4,933,729 | C/T | — | uncertain significance |
| rs764826268 | 16:4,933,753 | C/T | — | uncertain significance |
| rs148928062 | 16:4,933,759 | T/C | — | uncertain significance |
| rs370359256 | 16:4,933,762 | C/T | — | uncertain significance |
| rs146564793 | 16:4,933,840 | T/A | — | uncertain significance |
| rs376592534 | 16:4,933,861 | T/C | — | uncertain significance |
| rs138228343 | 16:4,933,866 | C/T | — | uncertain significance |
| rs140342271 | 16:4,933,875 | C/T | — | conflicting classifications of pathogenicity |
| rs145419671 | 16:4,933,884 | G/A | — | uncertain significance |
| rs779359627 | 16:4,933,894 | T/C | — | uncertain significance |
| rs202076806 | 16:4,933,917 | C/T | — | uncertain significance |
| rs140900138 | 16:4,933,926 | A/G | — | uncertain significance |
| rs534852312 | 16:4,934,007 | T/C | — | uncertain significance |
| rs773289362 | 16:4,934,053 | C/T | — | uncertain significance |
| rs537543670 | 16:4,934,062 | C/G | — | uncertain significance |
| rs117997908 | 16:4,934,063 | G/A | — | likely benign |
| rs147379842 | 16:4,934,064 | C/T | — | uncertain significance |
| rs137985169 | 16:4,934,074 | G/A | — | uncertain significance |
| rs2506161281 | 16:4,934,086 | C/G | — | uncertain significance |
| rs2506161919 | 16:4,934,185 | C/G | — | uncertain significance |
| rs751026334 | 16:4,934,233 | G/T | — | uncertain significance |
| rs370851120 | 16:4,934,238 | C/T | — | uncertain significance |
| rs755943888 | 16:4,934,241 | C/T | — | uncertain significance |
| rs1259925733 | 16:4,934,245 | G/A | — | uncertain significance |
| rs201005685 | 16:4,934,268 | C/T | — | uncertain significance |
| rs138114664 | 16:4,934,273 | C/T | — | benign |
| rs143676756 | 16:4,934,286 | C/T | — | uncertain significance |
| rs1794893317 | 16:4,934,312 | C/T | — | likely benign |
| rs367794477 | 16:4,934,325 | G/A | — | uncertain significance |
| rs748503574 | 16:4,934,331 | G/C | — | uncertain significance |
| rs771636228 | 16:4,934,343 | C/T | — | uncertain significance |
| rs537525415 | 16:4,934,427 | C/T | — | uncertain significance |
| rs140117389 | 16:4,934,433 | C/T | — | uncertain significance |
| rs761293930 | 16:4,934,464 | C/T | — | uncertain significance |
| rs139894677 | 16:4,934,466 | G/T | — | benign |
| rs777290550 | 16:4,934,517 | C/T | — | uncertain significance |
| rs2506163789 | 16:4,934,535 | C/T | — | uncertain significance |
| rs776731772 | 16:4,934,539 | C/T | — | uncertain significance |
| rs35725819 | 16:4,934,552 | C/T | — | benign |
| rs763556089 | 16:4,934,558 | G/A | — | likely benign |
| rs757244985 | 16:4,934,563 | G/A | — | uncertain significance |
| rs374311708 | 16:4,934,571 | G/C | — | uncertain significance |
| rs200703896 | 16:4,934,622 | C/T | — | likely benign |
| rs770020590 | 16:4,934,635 | C/T | — | uncertain significance |
| rs2506164288 | 16:4,934,655 | T/C | — | uncertain significance |
| rs754803512 | 16:4,934,668 | C/G | — | uncertain significance |
| rs1016847665 | 16:4,934,701 | G/C | — | uncertain significance |
| rs749366391 | 16:4,934,707 | C/G | — | uncertain significance |
| rs767387383 | 16:4,934,756 | T/G | — | uncertain significance |
| rs2506164860 | 16:4,934,887 | C/T | — | uncertain significance |
| rs2088185162 | 16:4,934,913 | A/G | — | uncertain significance |
| rs1196188716 | 16:4,934,988 | C/T | — | uncertain significance |
| rs148207473 | 16:4,935,028 | G/A | — | uncertain significance |
| rs150446268 | 16:4,935,057 | C/T | — | uncertain significance |
| rs12446946 | 16:4,935,061 | C/G | — | likely benign |
| rs370446525 | 16:4,935,104 | C/T | — | likely benign |
| rs1172697460 | 16:4,935,137 | C/A | — | uncertain significance |
| rs748701085 | 16:4,935,223 | G/A | — | uncertain significance |
| rs770399852 | 16:4,935,232 | C/T | — | uncertain significance |
| rs151203356 | 16:4,935,242 | C/T | — | benign |
| rs753325015 | 16:4,935,253 | G/A | — | uncertain significance |
| rs571194570 | 16:4,935,257 | G/A | — | benign |
| rs145318499 | 16:4,935,258 | A/T | — | conflicting classifications of pathogenicity |
| rs367599333 | 16:4,935,264 | C/T | — | uncertain significance |
| rs11863749 | 16:4,935,278 | G/T | — | benign |
| rs750164082 | 16:4,935,343 | G/A | — | uncertain significance |
| rs1270888635 | 16:4,935,352 | C/G | — | uncertain significance |
| rs1251690380 | 16:4,935,413 | G/T | — | uncertain significance |
| rs779067610 | 16:4,935,502 | C/A | — | uncertain significance |
| rs369644877 | 16:4,935,516 | C/T | — | uncertain significance |
| rs2506167249 | 16:4,935,520 | T/G | — | uncertain significance |
| rs974816814 | 16:4,935,521 | C/A | — | uncertain significance |
| rs560350086 | 16:4,935,537 | G/T | — | uncertain significance |
| rs1039594297 | 16:4,935,556 | G/C | — | uncertain significance |
| rs371322586 | 16:4,935,568 | C/G | — | uncertain significance |
| rs139002459 | 16:4,935,576 | C/T | — | uncertain significance |
| rs373324430 | 16:4,935,580 | C/T | — | likely benign |
| rs767821204 | 16:4,935,616 | G/A | — | uncertain significance |
| rs2506167565 | 16:4,935,620 | C/G | — | uncertain significance |
| rs749462562 | 16:4,935,656 | G/C | — | uncertain significance |
| rs1025735742 | 16:4,935,679 | C/A | — | uncertain significance |
| rs9934981 | 16:4,935,695 | G/A | — | benign |
| rs2506167794 | 16:4,935,712 | C/T | — | uncertain significance |
| rs149600823 | 16:4,935,751 | C/T | — | uncertain significance |
| rs1184266520 | 16:4,935,769 | T/C | — | uncertain significance |
| rs144282072 | 16:4,935,772 | G/T | — | uncertain significance |
| rs774072790 | 16:4,935,792 | C/T | — | likely benign |
| rs2506168085 | 16:4,935,810 | C/T | — | uncertain significance |
Showing 100 of 229 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.