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.V109fs

c.325_326fs

Surrounding Variants

1 paper

NM_004586.3

p.V109G

c.326T>G

1 paper

NM_004586.3

p.V109Splc

c.326-1G>T

6 papers

NM_004586.3

p.V109Splc

c.326-1G>C

14 papers

NM_004586.3

p.R110*

c.328C>T

1 paper

NM_004586.3

p.V109delFs

c.327delA

1 paper

NM_004586.3

p.R110fs

c.328_329fs

1 paper

NM_004586.3

p.D111V

c.332A>T

3 papers

NM_004586.3

p.R112*

c.334C>T

1 paper

NM_004586.3

p.R112R

c.336A>G

4 papers

NM_004586.3

p.V109Splc

c.326-11A>G

1 paper

NM_004586.3

p.V109_V113Fs

c.326_338delinsCTCGAGACFs

10 papers

NM_004586.3

p.R114W

c.340C>T