SKIL
SKI like proto-oncogene
Summary
The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2474300608 | 3:170,078,160 | C/T | — | uncertain significance |
| rs759453593 | 3:170,078,180 | A/G | — | uncertain significance |
| rs1736164190 | 3:170,078,189 | G/C | — | uncertain significance |
| rs915190441 | 3:170,078,318 | G/C | — | uncertain significance |
| rs2474301761 | 3:170,078,463 | G/T | — | uncertain significance |
| rs1299200902 | 3:170,078,561 | G/A | — | uncertain significance |
| rs760068200 | 3:170,078,613 | T/A | — | uncertain significance |
| rs142079654 | 3:170,078,693 | A/T | — | uncertain significance |
| rs773956003 | 3:170,078,712 | C/G | — | uncertain significance |
| rs1736201272 | 3:170,078,823 | G/A | — | uncertain significance |
| rs3772174 | 3:170,078,827 | A/G | — | benign |
| rs144342348 | 3:170,078,859 | C/T | — | uncertain significance |
| rs201881800 | 3:170,078,892 | C/G | — | uncertain significance |
| rs773612080 | 3:170,078,967 | A/G | — | uncertain significance |
| rs193920870 | 3:170,079,061 | A/T | — | uncertain significance |
| rs757827153 | 3:170,079,201 | A/C | — | uncertain significance |
| rs781469948 | 3:170,079,204 | G/A | — | uncertain significance |
| rs186507741 | 3:170,088,226 | A/T | — | — |
| rs62295839 | 3:170,092,057 | A/C | — | — |
| rs6785326 | 3:170,095,145 | T/A | — | — |
| rs4955721 | 3:170,098,443 | A/G | — | — |
| rs766169486 | 3:170,099,063 | C/T | — | uncertain significance |
| rs970669033 | 3:170,099,077 | A/G | — | uncertain significance |
| rs6784631 | 3:170,100,476 | T/A | — | — |
| rs780634860 | 3:170,102,331 | T/C | — | uncertain significance |
| rs750891726 | 3:170,102,434 | A/T | — | uncertain significance |
| rs755179957 | 3:170,102,493 | T/C | — | uncertain significance |
| rs748457942 | 3:170,102,496 | C/T | — | uncertain significance |
| rs200487211 | 3:170,102,548 | G/A | — | likely benign |
| rs74505194 | 3:170,105,709 | G/C | — | — |
| rs574619878 | 3:170,108,019 | A/G | — | likely benign |
| rs2474353646 | 3:170,108,034 | A/G | — | uncertain significance |
| rs890517926 | 3:170,108,067 | A/C | — | uncertain significance |
| rs996741608 | 3:170,108,088 | A/C | — | likely benign |
| rs747975807 | 3:170,108,116 | C/A | — | uncertain significance |
| rs1311315051 | 3:170,108,189 | A/T | — | uncertain significance |
| rs2474355070 | 3:170,108,851 | T/G | — | likely benign |
| rs2474355125 | 3:170,108,875 | C/A | — | uncertain significance |
| rs1737893200 | 3:170,108,941 | T/C | — | uncertain significance |
| rs563321311 | 3:170,108,953 | A/G | — | uncertain significance |
| rs1737898228 | 3:170,109,013 | T/G | — | uncertain significance |
| rs1332648709 | 3:170,110,071 | G/T | — | uncertain significance |
| rs756630039 | 3:170,110,123 | G/T | — | uncertain significance |
| rs1737967119 | 3:170,110,138 | A/G | — | uncertain significance |
| rs61761943 | 3:170,110,147 | T/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.