JUP
junction plakoglobin
Summary
This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
Known Variants1,001 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8071562 | 17:39,910,778 | C/A | — | benign |
| rs539534709 | 17:39,910,860 | G/A | — | uncertain significance |
| rs147905567 | 17:39,910,969 | C/G | — | conflicting classifications of pathogenicity |
| rs187950810 | 17:39,910,970 | C/T | — | uncertain significance |
| rs1292357653 | 17:39,910,982 | G/A | — | uncertain significance |
| rs569644513 | 17:39,911,090 | T/G | — | uncertain significance |
| rs55919561 | 17:39,911,143 | A/G | — | conflicting classifications of pathogenicity |
| rs551870163 | 17:39,911,209 | T/C | — | uncertain significance |
| rs569650118 | 17:39,911,225 | C/G | — | uncertain significance |
| rs889216050 | 17:39,911,268 | T/G | — | uncertain significance |
| rs56339743 | 17:39,911,287 | C/G | — | likely benign |
| rs782166986 | 17:39,911,326 | C/A | — | uncertain significance |
| rs8074883 | 17:39,911,327 | G/A | — | likely benign |
| rs55634776 | 17:39,911,373 | C/T | — | conflicting classifications of pathogenicity |
| rs1913479153 | 17:39,911,403 | G/A | — | uncertain significance |
| rs886052913 | 17:39,911,423 | G/A | — | uncertain significance |
| rs886052914 | 17:39,911,429 | G/C | — | uncertain significance |
| rs1913504384 | 17:39,911,499 | T/A | — | uncertain significance |
| rs886052915 | 17:39,911,560 | C/T | — | uncertain significance |
| rs559600252 | 17:39,911,583 | G/A | — | uncertain significance |
| rs1025065671 | 17:39,911,587 | G/C | — | uncertain significance |
| rs782725604 | 17:39,911,645 | C/T | — | uncertain significance |
| rs575041614 | 17:39,911,657 | G/A | — | uncertain significance |
| rs910457325 | 17:39,911,680 | C/T | — | uncertain significance |
| rs552155645 | 17:39,911,684 | C/T | — | likely benign |
| rs73983656 | 17:39,911,710 | G/A | — | likely benign |
| rs115919416 | 17:39,911,757 | C/T | — | conflicting classifications of pathogenicity |
| rs4627408 | 17:39,911,771 | A/G | — | benign |
| rs112151379 | 17:39,911,898 | G/A | — | uncertain significance |
| rs375989026 | 17:39,911,909 | C/T | — | uncertain significance |
| rs41275669 | 17:39,911,975 | G/T | — | conflicting classifications of pathogenicity |
| rs782012233 | 17:39,911,977 | C/T | — | uncertain significance |
| rs200222165 | 17:39,911,978 | G/A | — | conflicting classifications of pathogenicity |
| rs1057522449 | 17:39,911,982 | T/G | — | likely benign |
| rs201552065 | 17:39,911,993 | C/T | — | benign |
| rs112879398 | 17:39,911,994 | G/A | — | conflicting classifications of pathogenicity |
| rs2544006052 | 17:39,911,996 | C/T | — | likely benign |
| rs1913590161 | 17:39,912,002 | C/T | — | uncertain significance |
| rs782069599 | 17:39,912,004 | G/A | — | likely benign |
| rs1913591137 | 17:39,912,007 | T/C | — | uncertain significance |
| rs1555597332 | 17:39,912,012 | T/C | — | uncertain significance |
| rs142102308 | 17:39,912,014 | T/C | — | likely benign |
| rs1366673962 | 17:39,912,015 | G/A | — | uncertain significance |
| rs200283001 | 17:39,912,019 | T/C | — | conflicting classifications of pathogenicity |
| rs781848758 | 17:39,912,020 | G/T | — | likely benign |
| rs2544006478 | 17:39,912,022 | G/A | — | uncertain significance |
| rs2143370644 | 17:39,912,023 | G/A | — | likely benign |
| rs371508357 | 17:39,912,026 | C/T | — | conflicting classifications of pathogenicity |
| rs151178348 | 17:39,912,027 | G/A | — | conflicting classifications of pathogenicity |
| rs782574785 | 17:39,912,030 | G/C | — | uncertain significance |
| rs1469855194 | 17:39,912,031 | G/A | — | uncertain significance |
| rs1913599900 | 17:39,912,037 | G/A | — | uncertain significance |
| rs781885294 | 17:39,912,040 | C/T | — | uncertain significance |
| rs199683273 | 17:39,912,041 | G/A | — | likely benign |
| rs782647137 | 17:39,912,043 | C/T | — | conflicting classifications of pathogenicity |
| rs1220770833 | 17:39,912,044 | G/A | — | likely benign |
| rs782261124 | 17:39,912,045 | C/T | — | conflicting classifications of pathogenicity |
| rs1009184280 | 17:39,912,046 | T/C | — | uncertain significance |
| rs1555597428 | 17:39,912,049 | A/T | — | uncertain significance |
| rs1285789744 | 17:39,912,055 | C/T | — | conflicting classifications of pathogenicity |
| rs141295561 | 17:39,912,056 | G/A | — | conflicting classifications of pathogenicity |
| rs1225664898 | 17:39,912,072 | T/C | — | uncertain significance |
| rs782191490 | 17:39,912,076 | T/C | — | conflicting classifications of pathogenicity |
| rs1283154446 | 17:39,912,078 | T/C | — | uncertain significance |
| rs2544007733 | 17:39,912,080 | C/T | — | uncertain significance |
| rs782336064 | 17:39,912,081 | A/G | — | uncertain significance |
| rs1913613825 | 17:39,912,082 | T/C | — | uncertain significance |
| rs2544007822 | 17:39,912,083 | G/A | — | likely benign |
| rs1347008405 | 17:39,912,085 | G/C | — | uncertain significance |
| rs2544007971 | 17:39,912,087 | A/C | — | uncertain significance |
| rs1319143037 | 17:39,912,088 | T/C | — | uncertain significance |
| rs371395790 | 17:39,912,089 | C/T | — | likely benign |
| rs2143373822 | 17:39,912,093 | A/G | — | uncertain significance |
| rs782165431 | 17:39,912,095 | C/T | — | likely benign |
| rs530653041 | 17:39,912,096 | G/A | — | conflicting classifications of pathogenicity |
| rs1555597496 | 17:39,912,097 | G/T | — | uncertain significance |
| rs782096012 | 17:39,912,102 | A/G | — | uncertain significance |
| rs2143374346 | 17:39,912,104 | G/T | — | likely benign |
| rs1481267089 | 17:39,912,105 | G/T | — | uncertain significance |
| rs782693565 | 17:39,912,106 | G/A | — | conflicting classifications of pathogenicity |
| rs2544008362 | 17:39,912,109 | C/T | — | uncertain significance |
| rs781804177 | 17:39,912,112 | C/T | — | conflicting classifications of pathogenicity |
| rs1477036549 | 17:39,912,113 | G/A | — | likely benign |
| rs2544008622 | 17:39,912,120 | T/A | — | uncertain significance |
| rs1555597505 | 17:39,912,122 | C/T | — | uncertain significance |
| rs1193204524 | 17:39,912,124 | T/C | — | uncertain significance |
| rs1008749253 | 17:39,912,126 | G/C | — | uncertain significance |
| rs200690479 | 17:39,912,129 | C/T | — | conflicting classifications of pathogenicity |
| rs545547083 | 17:39,912,130 | G/A | — | uncertain significance |
| rs781857012 | 17:39,912,132 | T/C | — | conflicting classifications of pathogenicity |
| rs1555597536 | 17:39,912,134 | G/C | — | likely benign |
| rs1913627808 | 17:39,912,135 | G/A | — | uncertain significance |
| rs1555597540 | 17:39,912,136 | T/C | — | uncertain significance |
| rs782532135 | 17:39,912,139 | C/A | — | uncertain significance |
| rs1126821 | 17:39,912,145 | T/A | missense variant | benign |
| rs2544009292 | 17:39,912,151 | G/T | — | uncertain significance |
| rs886052917 | 17:39,912,152 | G/A | — | conflicting classifications of pathogenicity |
| rs1555597564 | 17:39,912,155 | C/T | — | likely benign |
| rs781839198 | 17:39,912,161 | G/A | — | likely benign |
| rs2544009669 | 17:39,912,164 | G/A | — | likely benign |
Showing 100 of 1,001 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.