RPS6KA2
ribosomal protein S6 kinase A2
Summary
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34651286 | 6:166,826,265 | C/G | — | benign |
| rs1338218673 | 6:166,826,270 | G/T | — | uncertain significance |
| rs2534144429 | 6:166,827,281 | C/G | — | uncertain significance |
| rs747341069 | 6:166,827,304 | C/T | — | uncertain significance |
| rs760448739 | 6:166,827,373 | G/A | — | uncertain significance |
| rs2534145294 | 6:166,827,382 | T/C | — | uncertain significance |
| rs748273135 | 6:166,831,736 | C/T | — | uncertain significance |
| rs571504052 | 6:166,831,772 | C/T | — | uncertain significance |
| rs141868317 | 6:166,833,421 | G/A | — | uncertain significance |
| rs1254821821 | 6:166,836,791 | C/T | — | association |
| rs147557165 | 6:166,836,792 | G/A | — | likely benign |
| rs754636268 | 6:166,844,023 | C/T | — | likely benign |
| rs779184447 | 6:166,844,024 | G/A | — | uncertain significance |
| rs200672567 | 6:166,844,053 | C/T | — | uncertain significance |
| rs765815045 | 6:166,844,081 | A/C | — | uncertain significance |
| rs1450913451 | 6:166,862,226 | C/T | — | likely benign |
| rs755127089 | 6:166,862,273 | C/A | — | uncertain significance |
| rs764188032 | 6:166,864,636 | G/A | — | likely benign |
| rs770497302 | 6:166,864,704 | G/A | — | uncertain significance |
| rs367918929 | 6:166,872,948 | C/T | — | uncertain significance |
| rs181011882 | 6:166,873,029 | C/T | — | uncertain significance |
| rs779326307 | 6:166,873,033 | A/G | — | uncertain significance |
| rs9366021 | 6:166,901,835 | C/T | regulatory region variant | — |
| rs770370189 | 6:166,918,022 | T/C | — | uncertain significance |
| rs147389590 | 6:166,944,769 | G/A | — | likely benign |
| rs770792530 | 6:166,944,776 | C/T | — | uncertain significance |
| rs1394285604 | 6:166,952,221 | A/G | — | uncertain significance |
| rs2534830848 | 6:166,952,251 | T/C | — | uncertain significance |
| rs771315271 | 6:166,952,263 | C/T | — | likely benign |
| rs546271087 | 6:166,992,699 | T/C | — | — |
| rs10455979 | 6:166,995,260 | C/T | — | — |
| rs7744326 | 6:166,997,177 | C/T | downstream gene variant | — |
| rs7738206 | 6:167,003,696 | T/C | upstream gene variant | — |
| rs6935464 | 6:167,114,208 | A/C | — | — |
| rs16899310 | 6:167,116,566 | G/A | upstream gene variant | — |
| rs9356513 | 6:167,124,744 | C/A | — | — |
| rs150435421 | 6:167,149,355 | G/A | intron variant | — |
| rs635808 | 6:167,177,422 | G/A | intron variant | — |
| rs185313909 | 6:167,181,126 | C/G | — | — |
| rs138600299 | 6:167,184,378 | G/A | — | likely benign |
| rs80156566 | 6:167,244,035 | C/T | regulatory region variant | — |
| rs148787246 | 6:167,271,692 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.