CRNN
cornulin
Summary
This gene encodes a member of the "fused gene" family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs752173632 | 1:152,382,077 | T/C | — | uncertain significance |
| rs376682384 | 1:152,382,095 | G/C | — | uncertain significance |
| rs138795800 | 1:152,382,122 | C/T | — | likely benign |
| rs762223527 | 1:152,382,129 | C/T | — | uncertain significance |
| rs144243061 | 1:152,382,323 | G/A | — | uncertain significance |
| rs2525451097 | 1:152,382,354 | C/T | — | uncertain significance |
| rs772748728 | 1:152,382,368 | T/A | — | uncertain significance |
| rs1420327274 | 1:152,382,401 | C/T | — | likely benign |
| rs2525451312 | 1:152,382,447 | C/T | — | uncertain significance |
| rs369635124 | 1:152,382,453 | C/T | — | uncertain significance |
| rs150413564 | 1:152,382,454 | G/A | — | likely benign |
| rs772353204 | 1:152,382,542 | C/T | — | uncertain significance |
| rs934586140 | 1:152,382,620 | G/A | — | uncertain significance |
| rs199915670 | 1:152,382,627 | C/G | — | uncertain significance |
| rs768833202 | 1:152,382,651 | C/T | — | uncertain significance |
| rs140890124 | 1:152,382,744 | C/T | — | likely benign |
| rs370909858 | 1:152,382,834 | C/A | — | uncertain significance |
| rs147531789 | 1:152,382,848 | C/G | — | uncertain significance |
| rs772410130 | 1:152,382,881 | G/A | — | uncertain significance |
| rs35492900 | 1:152,382,885 | C/T | — | uncertain significance |
| rs1439012701 | 1:152,382,909 | G/C | — | uncertain significance |
| rs751014239 | 1:152,382,936 | G/T | — | uncertain significance |
| rs143605221 | 1:152,383,016 | G/T | — | likely benign |
| rs147522047 | 1:152,383,119 | G/T | — | uncertain significance |
| rs2101705188 | 1:152,383,148 | T/C | — | uncertain significance |
| rs751673809 | 1:152,383,235 | C/A | — | uncertain significance |
| rs143373281 | 1:152,383,244 | A/G | — | uncertain significance |
| rs757029435 | 1:152,383,250 | C/T | — | uncertain significance |
| rs1570966164 | 1:152,383,254 | A/G | — | uncertain significance |
| rs140311780 | 1:152,383,266 | C/T | — | likely benign |
| rs2525453871 | 1:152,383,295 | G/T | — | uncertain significance |
| rs778730473 | 1:152,383,362 | T/C | — | uncertain significance |
| rs917185390 | 1:152,383,374 | C/G | — | uncertain significance |
| rs2525456885 | 1:152,384,633 | G/C | — | uncertain significance |
| rs752717648 | 1:152,384,658 | A/T | — | uncertain significance |
| rs4240876 | 1:152,387,236 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.