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

1–12 of 390 variants

14 papers

NM_004586.3

p.R110*

c.328C>T

13 papers

NM_004586.3

p.S227A

c.679T>G

10 papers

NM_004586.3

p.R114W

c.340C>T

8 papers

NM_004586.3

p.R300*

c.898C>T

7 papers

NM_004586.3

p.G75V

c.224G>T

7 papers

NM_004586.3

p.I189K

c.566T>A

6 papers

NM_004586.3

p.I88insFs

c.262_263insA

6 papers

NM_004586.3

p.V109Splc

c.326-1G>C

6 papers

NM_004586.3

p.R305*

c.913C>T

6 papers

NM_004586.3

p.N333_K334Splc

c.1000-2A>G

5 papers

NM_004586.3

p.K322_R323delFs

c.966_967delTT

5 papers

NM_004586.3

p.S369*

c.1106C>G