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.L636P

c.1907T>C

Surrounding Variants

2 papers

NM_002953.4

p.G639V

c.1916G>T

1 paper

NM_002953.4

p.G630D

c.1889G>A

1 paper

NM_002953.4

p.G630S

c.1888G>A

1 paper

NM_002953.4

p.A648T

c.1942G>A

1 paper

NM_002953.4

p.E623K

c.1867G>A

1 paper

NM_002953.4

p.S619insFs

c.1856_1857ins26

2 papers

NM_002953.4

p.G617S

c.1849G>A

1 paper

NM_002953.4

p.F614L

c.1842T>A

1 paper

NM_002953.4

p.F614L

c.1842T>G

1 paper

NM_002953.4

p.F614L

c.1840T>C

1 paper

NM_002953.4

p.P613L

c.1838C>T

1 paper

NM_002953.4

p.T606I

c.1817C>T