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

5 papers

NM_004586.3

p.S369*

c.1106C>A

Surrounding Variants

5 papers

NM_004586.3

p.S369*

c.1106C>G

1 paper

NM_004586.3

p.S369A

c.1105T>G

1 paper

NM_004586.3

p.D368Splc

c.1103-2A>G

1 paper

NM_004586.3

p.A376G

c.1127C>G

5 papers

NM_004586.3

p.R383W

c.1147C>T

1 paper

NM_004586.3

p.F385L

c.1155T>A

1 paper

NM_004586.3

p.S386C

c.1156A>T

1 paper

NM_004586.3

p.F385delFs

c.1155delA

3 papers

NM_004586.3

p.F387C

c.1160T>G

1 paper

NM_004586.3

p.S392A

c.1174T>G

1 paper

NM_004586.3

p.S392*

c.1175C>G

1 paper

NM_004586.3

p.S392*

c.1175C>A