AKT1S1
AKT1 substrate 1
Summary
AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2514650045 | 19:50,373,187 | T/C | — | uncertain significance |
| rs751617368 | 19:50,373,190 | A/T | — | uncertain significance |
| rs781390299 | 19:50,373,210 | G/C | — | uncertain significance |
| rs547130969 | 19:50,373,233 | C/G | — | uncertain significance |
| rs373953482 | 19:50,373,243 | C/A | — | uncertain significance |
| rs752454102 | 19:50,374,841 | C/G | — | uncertain significance |
| rs376815969 | 19:50,374,922 | G/T | — | uncertain significance |
| rs138502258 | 19:50,375,123 | C/T | — | likely benign |
| rs375809091 | 19:50,375,141 | A/T | — | uncertain significance |
| rs149454204 | 19:50,376,205 | G/A | — | benign |
| rs138784716 | 19:50,376,209 | G/T | — | uncertain significance |
| rs757816767 | 19:50,376,234 | C/T | — | uncertain significance |
| rs199876698 | 19:50,376,317 | G/A | — | uncertain significance |
| rs746829615 | 19:50,376,327 | G/A | — | uncertain significance |
| rs755915845 | 19:50,376,363 | C/T | — | uncertain significance |
| rs201965042 | 19:50,376,388 | C/T | — | benign |
| rs372391123 | 19:50,376,389 | G/A | — | uncertain significance |
| rs901245546 | 19:50,376,407 | T/C | — | uncertain significance |
| rs200707263 | 19:50,376,454 | C/T | — | likely benign |
| rs1189382926 | 19:50,376,458 | G/A | — | uncertain significance |
| rs2074905586 | 19:50,376,470 | A/G | — | uncertain significance |
| rs1335300230 | 19:50,376,486 | G/A | — | uncertain significance |
| rs774892718 | 19:50,376,498 | G/A | — | uncertain significance |
| rs376815125 | 19:50,376,505 | G/A | — | likely benign |
| rs2074906419 | 19:50,376,507 | C/G | — | uncertain significance |
| rs752918967 | 19:50,376,516 | C/T | — | uncertain significance |
| rs528045149 | 19:50,376,534 | C/T | — | uncertain significance |
| rs750334898 | 19:50,376,545 | G/A | — | uncertain significance |
| rs552615101 | 19:50,376,970 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.