Varaico: Literature-Extracted Genetic Variants

RPS6KB2

174 papers

RefSeq 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 eukaryoti...

Pfam Domains

Pkinaseaa 67–328UCSCProtein kinase domain

Pkinase_Caa 349–389UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase B2

HGNC Alias Symbols

p70S6Kb; P70-BETA; STK14B; KLS; S6KB; S6Kbeta; S6Kβ

Papers

RefSeq ID

Protein change

DNA change

1–12 of 248 variants

8 papers

NM_003952.3

p.P267L

c.800C>T

7 papers

NM_003952.3

p.A420V

c.1259C>T

4 papers

NM_003952.3

p.R120W

c.358C>T

2 papers

NM_003952.3

p.M1V

c.1A>G

2 papers

NM_003952.3

p.G19_E20ins0

c.55_60dup6

2 papers

NM_003952.3

p.E40K

c.118G>A

2 papers

NM_003952.3

p.K80_V81Splc

c.240+1G>C

2 papers

NM_003952.3

p.V87E

c.260T>A

2 papers

NM_003952.3

p.P129H

c.386C>A

2 papers

NM_003952.3

p.V132A

c.395T>C

2 papers

NM_003952.3

p.Y136C

c.407A>G

2 papers

NM_003952.3

p.L146insFs

c.437dupT