Home > Gene Browser > RPS6KB2
RPS6KB2
- Synonyms
- KLS, P70-beta, P70-beta-1, P70-beta-2, S6K-beta2, S6K2, S6KB, S6KI(2), S6Kbeta, SRK, STK14B, p70(S6K)-beta, p70S6Kb
- External resources
- NCBI6199
- OMIM608939
- EnsemblENSG00000175634
- HGNCHGNC:10437
- Summary
- This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 0
- Likely pathogenic
- 0
- VUS
- 21,886
- Likely benign
- 3,106
- Benign
- 0
Patient phenotypes
No patients carry pathogenic or likely pathogenic variants on RPS6KB2 gene.
- Phenotype class
- Patients in 3billion (%)
Have a question or need assistance? Ask here.
Send us your questions or comments related to the variant counts and/or patient phenotypes