ASPRV1
aspartic peptidase retroviral like 1
Summary
Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7583236 | 2:70,182,805 | T/A | coding sequence variant | — |
| rs756352033 | 2:70,187,881 | G/T | — | pathogenic |
| rs373824162 | 2:70,187,889 | C/G | — | pathogenic |
| rs777566583 | 2:70,187,991 | G/A | — | uncertain significance |
| rs147056246 | 2:70,188,042 | G/A | — | likely benign |
| rs906077985 | 2:70,188,055 | C/A | — | uncertain significance |
| rs138437547 | 2:70,188,089 | C/T | — | likely benign |
| rs1678079858 | 2:70,188,226 | T/C | — | pathogenic |
| rs1170861011 | 2:70,188,300 | A/T | — | uncertain significance |
| rs2465973872 | 2:70,188,364 | G/A | — | uncertain significance |
| rs780417082 | 2:70,188,478 | G/A | — | uncertain significance |
| rs1334412692 | 2:70,188,481 | T/C | — | uncertain significance |
| rs755538169 | 2:70,188,535 | G/A | — | uncertain significance |
| rs775218716 | 2:70,188,565 | C/G | — | uncertain significance |
| rs2465975677 | 2:70,188,571 | T/C | — | likely benign |
| rs781080982 | 2:70,188,694 | C/T | — | uncertain significance |
| rs184561703 | 2:70,188,726 | G/A | — | uncertain significance |
| rs753122085 | 2:70,188,729 | T/A | — | uncertain significance |
| rs1400526536 | 2:70,188,798 | A/G | — | uncertain significance |
| rs2465978035 | 2:70,188,801 | C/T | — | uncertain significance |
| rs1987094 | 2:70,190,872 | A/G | upstream gene variant | — |
| rs6714570 | 2:70,197,347 | A/T | — | — |
| rs6711139 | 2:70,204,015 | C/T | intron variant | — |
| rs12329148 | 2:70,256,255 | G/A | — | — |
| rs75346085 | 2:70,265,796 | T/C | intron variant | — |
| rs4852431 | 2:70,311,203 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.