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

1 paper

NM_003942.3

p.P755insFs

c.2264dupC

Surrounding Variants

1 paper

NM_003942.3

p.A754fs

c.2260_2261fs

3 papers

NM_003942.3

p.S758A

c.2272T>G

1 paper

NM_003942.3

p.S758Y

c.2273C>A

1 paper

NM_003942.3

p.R763fs

c.2287_2288fs

1 paper

NM_003942.3

p.R743W

c.2227C>T

1 paper

NM_003942.3

p.A765D

c.2294C>A

1 paper

NM_003942.3

p.G767D

c.2300G>A

2 papers

NM_003942.3

p.P771delFs

c.2313delC

1 paper

NM_003942.3

p.S772fs

c.2314_2315fs

1 paper

NM_003942.3

p.N724N

c.2172T>C

1 paper

NM_003942.3

p.S721R

c.2163C>A

1 paper

NM_003942.3

p.S721R

c.2163C>G