PKP3
plakophilin 3
Summary
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Known Variants103 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143728940 | 11:392,702 | G/A | — | likely benign |
| rs773899469 | 11:394,299 | G/A | — | uncertain significance |
| rs969838495 | 11:394,321 | C/T | — | uncertain significance |
| rs753607257 | 11:394,354 | C/T | — | uncertain significance |
| rs913005931 | 11:394,387 | G/A | — | uncertain significance |
| rs1410463654 | 11:394,389 | G/A | — | uncertain significance |
| rs1052027375 | 11:394,410 | C/T | — | uncertain significance |
| rs890676563 | 11:394,417 | G/A | — | uncertain significance |
| rs1036359390 | 11:394,423 | C/T | — | uncertain significance |
| rs113765121 | 11:394,446 | G/A | — | uncertain significance |
| rs961326673 | 11:394,477 | G/A | — | uncertain significance |
| rs1036055950 | 11:394,485 | G/A | — | uncertain significance |
| rs373142275 | 11:394,491 | G/A | — | uncertain significance |
| rs987636888 | 11:394,523 | A/C | — | uncertain significance |
| rs10902158 | 11:396,308 | G/A | regulatory region variant | — |
| rs7105848 | 11:396,546 | G/A | regulatory region variant | — |
| rs150738891 | 11:396,674 | G/A | — | uncertain significance |
| rs149396982 | 11:396,686 | C/T | — | uncertain significance |
| rs544269907 | 11:396,821 | G/A | — | uncertain significance |
| rs1318329289 | 11:396,823 | C/G | — | uncertain significance |
| rs146366062 | 11:396,865 | C/T | — | benign |
| rs574418224 | 11:396,866 | G/A | — | uncertain significance |
| rs745575978 | 11:396,871 | G/T | — | uncertain significance |
| rs373691974 | 11:396,874 | G/A | — | uncertain significance |
| rs1554918570 | 11:396,892 | C/T | — | uncertain significance |
| rs374337884 | 11:396,893 | G/A | — | uncertain significance |
| rs200933703 | 11:396,946 | G/C | — | uncertain significance |
| rs2539263785 | 11:396,947 | G/C | — | uncertain significance |
| rs375937629 | 11:396,978 | C/T | — | likely benign |
| rs774699533 | 11:396,982 | C/T | — | uncertain significance |
| rs202136556 | 11:396,985 | G/A | — | uncertain significance |
| rs144499370 | 11:397,019 | G/A | — | uncertain significance |
| rs774558226 | 11:397,042 | C/A | — | uncertain significance |
| rs772575836 | 11:397,046 | G/A | — | uncertain significance |
| rs151265573 | 11:397,054 | C/T | — | likely benign |
| rs140509313 | 11:397,055 | G/T | — | uncertain significance |
| rs779019068 | 11:397,070 | G/A | — | uncertain significance |
| rs200877353 | 11:397,078 | G/A | — | uncertain significance |
| rs771277318 | 11:397,081 | C/T | — | uncertain significance |
| rs201982353 | 11:397,143 | G/A | — | likely benign |
| rs199935009 | 11:397,147 | G/A | — | uncertain significance |
| rs761392931 | 11:397,198 | G/A | — | uncertain significance |
| rs781739031 | 11:397,222 | C/T | — | uncertain significance |
| rs532196661 | 11:397,228 | A/T | — | uncertain significance |
| rs771665192 | 11:397,232 | G/A | — | uncertain significance |
| rs368100123 | 11:397,283 | G/A | — | uncertain significance |
| rs770826034 | 11:397,288 | G/A | — | uncertain significance |
| rs767775391 | 11:397,312 | G/A | — | likely benign |
| rs770438236 | 11:397,337 | C/T | — | uncertain significance |
| rs373098536 | 11:397,373 | C/T | — | uncertain significance |
| rs77752215 | 11:397,390 | G/T | — | benign |
| rs573522262 | 11:397,411 | G/C | — | uncertain significance |
| rs763252536 | 11:397,444 | G/A | — | uncertain significance |
| rs769255927 | 11:397,564 | G/A | — | uncertain significance |
| rs1564879360 | 11:397,568 | T/C | — | uncertain significance |
| rs1464878157 | 11:397,592 | C/G | — | uncertain significance |
| rs1847071540 | 11:397,595 | A/G | — | uncertain significance |
| rs2539265298 | 11:397,601 | A/G | — | uncertain significance |
| rs571337193 | 11:397,639 | A/C | — | uncertain significance |
| rs138662102 | 11:397,642 | G/T | — | uncertain significance |
| rs767485120 | 11:399,013 | C/T | — | uncertain significance |
| rs748890756 | 11:399,061 | C/T | — | uncertain significance |
| rs773167699 | 11:399,079 | C/T | — | uncertain significance |
| rs760415848 | 11:399,080 | G/A | — | uncertain significance |
| rs756751329 | 11:399,161 | G/A | — | uncertain significance |
| rs146148387 | 11:399,172 | G/T | — | uncertain significance |
| rs777411352 | 11:399,182 | G/A | — | uncertain significance |
| rs1444267910 | 11:400,020 | G/A | — | uncertain significance |
| rs140479964 | 11:400,064 | G/A | — | likely benign |
| rs144447333 | 11:400,075 | G/A | — | uncertain significance |
| rs139128100 | 11:400,124 | C/G | — | likely benign |
| rs796260537 | 11:400,374 | C/T | — | uncertain significance |
| rs888397476 | 11:400,432 | C/G | — | uncertain significance |
| rs950509506 | 11:400,538 | G/T | — | uncertain significance |
| rs369216125 | 11:400,577 | C/A | — | uncertain significance |
| rs1389553359 | 11:400,593 | T/C | — | uncertain significance |
| rs1054170569 | 11:400,629 | G/A | — | uncertain significance |
| rs1194981379 | 11:400,695 | G/T | — | uncertain significance |
| rs1202416414 | 11:400,703 | G/C | — | uncertain significance |
| rs113784642 | 11:403,087 | G/A | — | likely benign |
| rs538614235 | 11:403,097 | C/T | — | uncertain significance |
| rs377458542 | 11:403,098 | G/T | — | likely benign |
| rs768118920 | 11:403,157 | A/T | — | uncertain significance |
| rs753469135 | 11:403,177 | C/T | — | uncertain significance |
| rs778551650 | 11:403,189 | C/T | — | uncertain significance |
| rs747596838 | 11:403,190 | G/A | — | uncertain significance |
| rs372974520 | 11:403,214 | C/T | — | uncertain significance |
| rs777703059 | 11:403,255 | G/A | — | uncertain significance |
| rs201248875 | 11:403,622 | C/T | — | uncertain significance |
| rs140851999 | 11:403,627 | G/A | — | uncertain significance |
| rs370327820 | 11:403,636 | C/T | — | uncertain significance |
| rs147657735 | 11:403,658 | G/C | — | uncertain significance |
| rs375964684 | 11:403,696 | G/A | — | uncertain significance |
| rs116633466 | 11:403,749 | C/T | — | benign |
| rs202227463 | 11:403,981 | G/A | missense variant | — |
| rs554962150 | 11:403,987 | G/A | — | uncertain significance |
| rs201036936 | 11:404,000 | C/T | — | uncertain significance |
| rs201654884 | 11:404,054 | T/C | — | uncertain significance |
| rs778673393 | 11:404,068 | G/A | — | uncertain significance |
| rs1004536865 | 11:404,069 | C/T | — | uncertain significance |
Showing 100 of 103 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.