Varaico: Literature-Extracted Genetic Variants

RPS6KA1

150 papers

RefSeq Summary

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, incl...

Pfam Domains

Pkinaseaa 62–321UCSCProtein kinase domain

Pkinase_Caa 342–381UCSCProtein kinase C terminal domain

Pkinaseaa 418–675UCSCProtein kinase domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase A1

HGNC Alias Symbols

RSK1; HU-1; p90Rsk; MAPKAPK1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 150 variants

5 papers

NM_002953.4

p.K335T

c.1004A>C

4 papers

NM_002953.4

p.Q344P

c.1031A>C

3 papers

NM_002953.4

p.P17P

c.51T>G

3 papers

NM_002953.4

p.A169A

c.507T>C

3 papers

NM_002953.4

p.S221A

c.661T>G

2 papers

NM_002953.4

p.V82A

c.245T>C

2 papers

NM_002953.4

p.D205N

c.613G>A

2 papers

NM_002953.4

p.R332C

c.994C>T

2 papers

NM_002953.4

p.S457L

c.1370C>T

2 papers

NM_002953.4

p.R510Q

c.1529G>A

2 papers

NM_002953.4

p.A582V

c.1745C>T

2 papers

NM_002953.4

p.R588H

c.1763G>A