Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.E69*

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.E69*
c.205G>T
Surrounding Variants
4 papers
NM_004586.3
p.F68L
c.204T>G
4 papers
NM_004586.3
p.F68L
c.204T>A
1 paper
NM_004586.3
p.E69A
c.206A>C
3 papers
NM_004586.3
p.F68C
c.203T>G
4 papers
NM_004586.3
p.F68L
c.202T>C
1 paper
NM_004586.3
p.L74F
c.222A>T
1 paper
NM_004586.3
p.L74F
c.222A>C
7 papers
NM_004586.3
p.G75V
c.224G>T
1 paper
NM_004586.3
p.G77R
c.229G>C
1 paper
NM_004586.3
p.G77R
c.229G>A
1 paper
NM_004586.3
p.G59*
c.175G>T
1 paper
NM_004586.3
p.E58fs
c.172_173fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."