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.L122*

c.365T>A

Surrounding Variants

1 paper

NM_004586.3

p.L122_V123insFs

c.364_368dup5

1 paper

NM_004586.3

p.E124fs

c.370_371fs

2 papers

NM_004586.3

p.R119P

c.356G>C

1 paper

NM_004586.3

p.R119C

c.355C>T

3 papers

NM_004586.3

p.E118G

c.353A>G

1 paper

NM_004586.3

p.E118A

c.353A>C

3 papers

NM_004586.3

p.H127Q

c.381T>G

3 papers

NM_004586.3

p.H127Q

c.381T>A

1 paper

NM_004586.3

p.P128L

c.383C>T

1 paper

NM_004586.3

p.F129insFs

c.386_387ins4

1 paper

NM_004586.3

p.T115I

c.344C>T

2 papers

NM_004586.3

p.T115S

c.343A>T