SLURP1
secreted LY6/PLAUR domain containing 1
Summary
The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs587600192 | 8:143,822,415 | C/T | — | uncertain significance |
| rs182887603 | 8:143,822,418 | C/T | — | likely benign |
| rs886062732 | 8:143,822,547 | C/T | — | uncertain significance |
| rs201974695 | 8:143,822,551 | C/T | — | uncertain significance |
| rs62636565 | 8:143,822,563 | A/G | — | conflicting classifications of pathogenicity |
| rs745736058 | 8:143,822,574 | T/C | — | uncertain significance |
| rs121908320 | 8:143,822,577 | C/T | missense variant | pathogenic |
| rs121908317 | 8:143,822,587 | G/A | stop gained | pathogenic |
| rs62636564 | 8:143,822,612 | G/A | — | benign |
| rs28937888 | 8:143,822,617 | C/T | missense variant | pathogenic |
| rs2488555660 | 8:143,822,630 | G/T | — | pathogenic |
| rs121908319 | 8:143,822,644 | A/G | missense variant | pathogenic |
| rs1051064544 | 8:143,822,662 | G/A | — | uncertain significance |
| rs145660272 | 8:143,822,671 | C/T | — | uncertain significance |
| rs771698285 | 8:143,822,675 | G/A | — | likely benign |
| rs371317832 | 8:143,822,697 | G/A | — | uncertain significance |
| rs1815863777 | 8:143,822,702 | G/A | — | likely benign |
| rs587776602 | 8:143,823,220 | C/T | — | pathogenic |
| rs200727790 | 8:143,823,221 | C/T | — | likely pathogenic |
| rs587771241 | 8:143,823,232 | G/A | — | conflicting classifications of pathogenicity |
| rs752253252 | 8:143,823,241 | G/A | — | uncertain significance |
| rs757855735 | 8:143,823,258 | G/A | — | uncertain significance |
| rs142285553 | 8:143,823,274 | C/T | — | uncertain significance |
| rs201958030 | 8:143,823,281 | T/C | — | uncertain significance |
| rs1324633355 | 8:143,823,288 | G/T | — | likely pathogenic |
| rs587776601 | 8:143,823,317 | — | — | pathogenic |
| rs748225232 | 8:143,823,734 | C/T | — | likely benign |
| rs775418598 | 8:143,823,757 | C/A | — | uncertain significance |
| rs121908318 | 8:143,823,761 | A/G | missense variant | pathogenic |
| rs267601807 | 8:143,823,794 | G/A | — | uncertain significance |
| rs28937889 | 8:143,823,803 | T/G | missense variant | pathogenic |
| rs201610070 | 8:143,823,810 | G/A | — | uncertain significance |
| rs2572914 | 8:143,823,858 | C/G | — | benign |
| rs13254346 | 8:143,823,863 | G/C | — | benign |
| rs587709290 | 8:143,824,265 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.