RPS6KA1
ribosomal protein S6 kinase A1
Summary
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical 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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201278235 | 1:26,863,453 | C/T | — | likely benign |
| rs17847444 | 1:26,863,454 | G/A | — | likely benign |
| rs1002487 | 1:26,865,971 | T/C | intron variant | — |
| rs4970486 | 1:26,871,669 | C/A | — | — |
| rs371482353 | 1:26,872,422 | C/T | — | uncertain significance |
| rs566031236 | 1:26,872,519 | G/A | — | likely benign |
| rs752945119 | 1:26,877,899 | G/A | — | uncertain significance |
| rs759436200 | 1:26,878,180 | G/A | — | uncertain significance |
| rs375857541 | 1:26,878,200 | C/T | — | uncertain significance |
| rs775659702 | 1:26,879,882 | G/A | — | uncertain significance |
| rs2525144532 | 1:26,881,123 | A/G | — | uncertain significance |
| rs141533618 | 1:26,881,173 | G/A | — | uncertain significance |
| rs2076083403 | 1:26,881,186 | G/A | — | uncertain significance |
| rs1488917029 | 1:26,881,197 | A/T | — | uncertain significance |
| rs2076088639 | 1:26,881,644 | T/G | — | uncertain significance |
| rs764528363 | 1:26,885,357 | G/A | — | uncertain significance |
| rs749064970 | 1:26,885,384 | G/A | — | uncertain significance |
| rs201413022 | 1:26,885,400 | C/T | — | uncertain significance |
| rs766769482 | 1:26,887,250 | G/A | — | uncertain significance |
| rs1408418598 | 1:26,887,277 | G/T | — | uncertain significance |
| rs1450683191 | 1:26,888,023 | C/A | — | uncertain significance |
| rs761917461 | 1:26,888,071 | C/T | — | uncertain significance |
| rs763102864 | 1:26,888,093 | G/A | — | uncertain significance |
| rs414546 | 1:26,890,836 | G/A | intron variant | — |
| rs2525248593 | 1:26,897,995 | A/T | — | uncertain significance |
| rs770722105 | 1:26,898,404 | C/T | — | uncertain significance |
| rs763447206 | 1:26,898,696 | A/G | — | uncertain significance |
| rs780609834 | 1:26,899,739 | G/A | — | uncertain significance |
| rs2076266889 | 1:26,899,842 | A/T | — | uncertain significance |
| rs1181574632 | 1:26,900,576 | A/G | — | uncertain significance |
| rs2076275063 | 1:26,900,595 | C/T | — | uncertain significance |
| rs2525264481 | 1:26,900,651 | G/T | — | uncertain significance |
| rs2229714 | 1:26,900,708 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.