KAZN
kazrin, periplakin interacting protein
Summary
This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185218563 | 1:14,369,797 | T/C | intergenic variant | — |
| rs187163948 | 1:14,399,146 | G/A | intergenic variant | — |
| rs2480054 | 1:14,792,535 | A/T | — | — |
| rs181411722 | 1:14,793,829 | A/T | intergenic variant | — |
| rs760466787 | 1:14,925,543 | A/G | — | uncertain significance |
| rs779003504 | 1:14,925,597 | G/C | — | uncertain significance |
| rs775963111 | 1:14,925,632 | G/C | — | uncertain significance |
| rs753797722 | 1:14,925,711 | G/C | — | uncertain significance |
| rs112716054 | 1:14,933,910 | C/A | — | — |
| rs746964795 | 1:15,287,180 | T/G | — | uncertain significance |
| rs146940193 | 1:15,287,288 | C/A | — | uncertain significance |
| rs6429703 | 1:15,339,960 | T/C | intron variant | — |
| rs6667220 | 1:15,347,640 | G/A | regulatory region variant | — |
| rs752191453 | 1:15,361,287 | A/T | — | uncertain significance |
| rs1421621626 | 1:15,361,331 | C/T | — | uncertain significance |
| rs200496421 | 1:15,370,558 | G/A | — | uncertain significance |
| rs759670949 | 1:15,382,755 | C/G | — | uncertain significance |
| rs765451521 | 1:15,382,765 | C/A | — | uncertain significance |
| rs200438096 | 1:15,386,777 | C/A | — | uncertain significance |
| rs918111534 | 1:15,386,790 | C/T | — | uncertain significance |
| rs538840624 | 1:15,390,080 | G/A | — | uncertain significance |
| rs751253060 | 1:15,420,745 | G/A | — | uncertain significance |
| rs2521862642 | 1:15,420,756 | G/A | — | uncertain significance |
| rs1476067868 | 1:15,420,798 | G/A | — | uncertain significance |
| rs747402938 | 1:15,421,375 | G/A | — | uncertain significance |
| rs779960555 | 1:15,428,196 | G/A | — | uncertain significance |
| rs367972333 | 1:15,428,238 | G/A | — | uncertain significance |
| rs896239858 | 1:15,429,903 | G/A | — | uncertain significance |
| rs1235400227 | 1:15,430,532 | A/G | — | uncertain significance |
| rs781151982 | 1:15,430,538 | C/T | — | uncertain significance |
| rs757619913 | 1:15,430,549 | G/A | — | uncertain significance |
| rs143083792 | 1:15,439,014 | G/A | — | uncertain significance |
| rs770316798 | 1:15,439,035 | C/T | — | uncertain significance |
| rs779345604 | 1:15,441,015 | T/A | — | uncertain significance |
| rs773375799 | 1:15,441,041 | A/T | — | uncertain significance |
| rs375046109 | 1:15,441,044 | C/G | — | uncertain significance |
| rs536173436 | 1:15,441,067 | C/A | — | uncertain significance |
| rs762709304 | 1:15,441,126 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.