CTSW
cathepsin W
Summary
The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. [provided by RefSeq, Jul 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1151519 | 11:65,645,831 | G/T | — | — |
| rs1591071686 | 11:65,647,347 | T/C | — | uncertain significance |
| rs764824217 | 11:65,647,706 | G/A | — | uncertain significance |
| rs753093602 | 11:65,647,707 | C/A | — | uncertain significance |
| rs185494956 | 11:65,648,818 | G/T | — | — |
| rs141204630 | 11:65,648,895 | G/C | — | uncertain significance |
| rs145070075 | 11:65,648,898 | A/T | — | uncertain significance |
| rs770809672 | 11:65,648,899 | T/A | — | uncertain significance |
| rs1860104889 | 11:65,648,916 | G/A | — | uncertain significance |
| rs761278901 | 11:65,649,685 | C/G | — | uncertain significance |
| rs1424530931 | 11:65,649,693 | G/A | — | uncertain significance |
| rs1461461985 | 11:65,649,700 | G/A | — | uncertain significance |
| rs147390159 | 11:65,649,777 | G/A | — | uncertain significance |
| rs139545276 | 11:65,649,780 | A/G | — | uncertain significance |
| rs781634013 | 11:65,649,944 | T/G | — | uncertain significance |
| rs149472509 | 11:65,649,953 | T/C | — | uncertain significance |
| rs147355525 | 11:65,649,958 | C/T | — | uncertain significance |
| rs752670833 | 11:65,649,980 | T/C | — | uncertain significance |
| rs151110979 | 11:65,649,985 | G/A | — | uncertain significance |
| rs140048610 | 11:65,649,991 | G/A | — | uncertain significance |
| rs114732493 | 11:65,650,090 | C/A | — | uncertain significance |
| rs140611694 | 11:65,650,098 | G/A | — | uncertain significance |
| rs1860127056 | 11:65,650,158 | A/G | — | uncertain significance |
| rs747942291 | 11:65,650,361 | A/C | — | likely benign |
| rs567450383 | 11:65,650,576 | C/T | — | uncertain significance |
| rs2495599725 | 11:65,650,589 | C/G | — | uncertain significance |
| rs773658130 | 11:65,650,591 | T/C | — | uncertain significance |
| rs761085585 | 11:65,650,594 | A/C | — | uncertain significance |
| rs572206716 | 11:65,650,693 | G/A | — | likely benign |
| rs35841983 | 11:65,650,883 | A/G | synonymous variant | — |
| rs373500922 | 11:65,650,988 | C/T | — | uncertain significance |
| rs768538496 | 11:65,651,031 | C/T | — | uncertain significance |
| rs760246700 | 11:65,651,043 | G/A | — | uncertain significance |
| rs2495601403 | 11:65,651,066 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.