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.V107D

c.320T>A

Surrounding Variants

1 paper

NM_002953.4

p.R106C

c.316C>T

1 paper

NM_002953.4

p.R113K

c.338G>A

1 paper

NM_002953.4

p.L127_H128delFs

c.381_382delGC

1 paper

NM_002953.4

p.Q132R

c.395A>G

1 paper

NM_002953.4

p.L139F

c.415C>T

1 paper

NM_002953.4

p.L144L

c.432G>T

1 paper

NM_002953.4

p.S154A

c.460T>G

1 paper

NM_002953.4

p.E156del1

c.466_467delGAG

1 paper

NM_002953.4

p.E156G

c.467A>G

1 paper

NM_002953.4

p.E156E

c.468G>A

3 papers

NM_002953.4

p.A169A

c.507T>C

1 paper

NM_002953.4

p.Y185F

c.554A>T