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

Selected Variant

1 paper

NM_002953.4

p.R588L

c.1763G>T

Surrounding Variants

2 papers

NM_002953.4

p.R588H

c.1763G>A

1 paper

NM_002953.4

p.D592D

c.1776T>C

1 paper

NM_002953.4

p.C595C

c.1785C>T

1 paper

NM_002953.4

p.Y605H

c.1813T>C

1 paper

NM_002953.4

p.T606I

c.1817C>T

2 papers

NM_002953.4

p.A582V

c.1745C>T

1 paper

NM_002953.4

p.N579N

c.1737C>T

1 paper

NM_002953.4

p.T577A

c.1729A>G

1 paper

NM_002953.4

p.T573A

c.1717A>G

1 paper

NM_002953.4

p.R565Q

c.1694G>A

1 paper

NM_002953.4

p.L564P

c.1691T>C

1 paper

NM_002953.4

p.K562R

c.1685A>G