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

Selected Variant

2 papers

NM_003942.3

p.R284P

c.851G>C

Surrounding Variants

1 paper

NM_003942.3

p.Q290delFs

c.870delG

1 paper

NM_003942.3

p.A269V

c.806C>T

1 paper

NM_003942.3

p.V268M

c.802G>A

1 paper

NM_003942.3

p.P259L

c.776C>T

1 paper

NM_003942.3

p.S258F

c.773C>T

1 paper

NM_003942.3

p.R252Splc

c.755+1G>A

1 paper

NM_001318361.2

p.R189Q

c.566G>A

NM_003942.3

p.R252Q

c.755G>A

1 paper

NM_003942.3

p.R252L

c.755G>T

1 paper

NM_003942.3

p.R252*

c.754C>T

1 paper

NM_003942.3

p.S236S

c.708G>A

4 papers

NM_003942.3

p.S236L

c.707C>T

1 paper

NM_003942.3

p.A235_S236ins2

c.705_706ins6