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

1 paper

NM_004586.3

p.E238V

c.713A>T

Surrounding Variants

1 paper

NM_004586.3

p.V240I

c.718G>A

4 papers

NM_004586.3

p.A236V

c.707C>T

1 paper

NM_004586.3

p.R242C

c.724C>T

1 paper

NM_004586.3

p.R242H

c.725G>A

2 papers

NM_004586.3

p.R243*

c.727C>T

1 paper

NM_004586.3

p.E233K

c.697G>A

3 papers

NM_004586.3

p.T231I

c.692C>T

1 paper

NM_004586.3

p.T246T

c.738T>A

1 paper

NM_004586.3

p.F228C

c.683T>G

1 paper

NM_004586.3

p.S248N

c.743G>A

13 papers

NM_004586.3

p.S227A

c.679T>G

2 papers

NM_004586.3

p.D250N

c.748G>A