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

6 papers

NM_004586.3

p.R305*

c.913C>T

Surrounding Variants

3 papers

NM_004586.3

p.K304fs

c.910_911fs

1 paper

NM_004586.3

p.N306D

c.916A>G

4 papers

NM_004586.3

p.K304insFs

c.910_911insT

1 paper

NM_004586.3

p.R300Q

c.899G>A

8 papers

NM_004586.3

p.R300*

c.898C>T

1 paper

NM_004586.3

p.L299delFs

c.896delA

1 paper

NM_004586.3

p.L311*

c.932T>G

1 paper

NM_004586.3

p.L311*

c.932T>A

3 papers

NM_004586.3

p.L298fs

c.892_893fs

4 papers

NM_004586.3

p.S297delFs

c.889_890delCT

1 paper

NM_004586.3

p.E294G

c.881A>G

1 paper

NM_004586.3

p.S292insFs

c.874_875insA