RPS6KA4
ribosomal protein S6 kinase A4
Summary
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs542907 | 11:64,124,980 | G/T | — | — |
| rs1192359059 | 11:64,126,728 | T/G | — | uncertain significance |
| rs866130178 | 11:64,127,709 | C/A | — | uncertain significance |
| rs521950 | 11:64,127,744 | A/G | — | benign |
| rs2495955016 | 11:64,127,761 | A/C | — | uncertain significance |
| rs2495955046 | 11:64,127,766 | T/G | — | uncertain significance |
| rs757067643 | 11:64,127,997 | A/G | — | uncertain significance |
| rs2036718376 | 11:64,128,062 | A/G | — | uncertain significance |
| rs545430280 | 11:64,129,199 | C/T | — | uncertain significance |
| rs764191979 | 11:64,129,209 | G/C | — | uncertain significance |
| rs2495968610 | 11:64,129,324 | A/G | — | likely benign |
| rs751104668 | 11:64,129,343 | C/T | — | uncertain significance |
| rs772788703 | 11:64,129,355 | C/T | — | uncertain significance |
| rs142374327 | 11:64,129,374 | C/T | — | uncertain significance |
| rs139519834 | 11:64,129,391 | C/T | — | uncertain significance |
| rs61736650 | 11:64,129,428 | C/T | — | benign |
| rs200299338 | 11:64,129,455 | G/A | — | uncertain significance |
| rs538147 | 11:64,129,722 | G/T | — | — |
| rs2495986379 | 11:64,132,813 | C/T | — | uncertain significance |
| rs148763785 | 11:64,132,842 | C/G | — | uncertain significance |
| rs72924202 | 11:64,133,228 | C/T | upstream gene variant | — |
| rs72926005 | 11:64,133,513 | A/C | upstream gene variant | — |
| rs72926006 | 11:64,133,516 | A/C | upstream gene variant | — |
| rs61886926 | 11:64,133,552 | C/T | upstream gene variant | — |
| rs617051 | 11:64,133,638 | C/T | — | — |
| rs113421210 | 11:64,133,658 | T/G | — | — |
| rs645078 | 11:64,135,298 | A/C | upstream gene variant | — |
| rs779393153 | 11:64,135,659 | C/T | — | uncertain significance |
| rs568222796 | 11:64,135,956 | A/G | — | uncertain significance |
| rs772065473 | 11:64,135,976 | C/T | — | uncertain significance |
| rs1330641044 | 11:64,136,022 | G/T | — | uncertain significance |
| rs144214742 | 11:64,136,044 | G/A | — | likely benign |
| rs11606015 | 11:64,136,877 | C/A | — | — |
| rs868745357 | 11:64,136,930 | C/G | — | uncertain significance |
| rs767081339 | 11:64,136,948 | C/T | — | uncertain significance |
| rs2036994865 | 11:64,136,994 | G/A | — | uncertain significance |
| rs369855912 | 11:64,137,049 | G/A | — | uncertain significance |
| rs1339408476 | 11:64,137,189 | G/A | — | uncertain significance |
| rs765300511 | 11:64,137,265 | T/C | — | uncertain significance |
| rs55643628 | 11:64,137,338 | C/T | — | benign |
| rs1277967478 | 11:64,137,342 | C/G | — | uncertain significance |
| rs753141796 | 11:64,137,733 | G/T | — | uncertain significance |
| rs146485043 | 11:64,137,805 | G/T | — | uncertain significance |
| rs753939688 | 11:64,137,814 | G/T | — | uncertain significance |
| rs753491076 | 11:64,138,051 | C/A | — | uncertain significance |
| rs371474786 | 11:64,138,072 | C/T | — | likely benign |
| rs566414593 | 11:64,138,088 | A/C | — | uncertain significance |
| rs1449835853 | 11:64,138,113 | C/T | — | uncertain significance |
| rs761347218 | 11:64,138,840 | G/T | — | uncertain significance |
| rs113701610 | 11:64,138,895 | C/T | — | likely benign |
| rs770200186 | 11:64,138,920 | C/G | — | uncertain significance |
| rs1591323222 | 11:64,138,929 | A/G | — | uncertain significance |
| rs760060325 | 11:64,138,932 | G/A | — | uncertain significance |
| rs776650038 | 11:64,138,941 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.