Varaico: Literature-Extracted Genetic Variants

RPS6KA3

325 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 68–327UCSCProtein kinase domain

Pkinase_Caa 351–387UCSCProtein kinase C terminal domain

Pkinaseaa 422–679UCSCProtein kinase domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase A3

HGNC Previous Symbols

MRX19; CLS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_004586.3

p.I189K

c.566T>A

Surrounding Variants

1 paper

NM_004586.3

p.I189T

c.566T>C

2 papers

NM_004586.3

p.R192T

c.575G>C

1 paper

NM_004586.3

p.D193N

c.577G>A

3 papers

NM_004586.3

p.R192delFs

c.575_576delTC

1 paper

NM_004586.3

p.E197*

c.589G>T

1 paper

NM_004586.3

p.A180A

c.540T>A

1 paper

NM_004586.3

p.N198fs

c.592_593fs

1 paper

NM_004586.3

p.N198I

c.593A>T

1 paper

NM_004586.3

p.N198Splc

c.593+5G>T

1 paper

NM_004586.3

p.A178G

c.533C>G

1 paper

NM_004586.3

p.F172S

c.515T>C

2 papers

NM_004586.3

p.E167delFs

c.501delT