Varaico: Literature-Extracted Genetic Variants

RPS6KA4

121 papers

RefSeq 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, inc...

Pfam Domains

Pkinaseaa 33–301UCSCProtein kinase domain

Pkinase_Caa 322–361UCSCProtein kinase C terminal domain

Pkinaseaa 412–674UCSCProtein kinase domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase A4

HGNC Alias Symbols

RSK-B; MSK2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 123 variants

4 papers

NM_003942.3

p.S236L

c.707C>T

3 papers

NM_003942.3

p.T479M

c.1436C>T

3 papers

NM_003942.3

p.S758A

c.2272T>G

2 papers

NM_003942.3

p.Q129*

c.385C>T

2 papers

NM_003942.3

p.R193Q

c.578G>A

2 papers

NM_003942.3

p.R284P

c.851G>C

2 papers

NM_003942.3

p.C460F

c.1379G>T

2 papers

NM_003942.3

p.E471K

c.1411G>A

2 papers

NM_003942.3

p.R629C

c.1885C>T

2 papers

NM_003942.3

p.A704T

c.2110G>A

2 papers

NM_003942.3

p.P771delFs

c.2313delC

1 paper

NM_003942.3

p.Y44H

c.130T>C