Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.L214insFs

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.L214insFs
c.641_642insC
Surrounding Variants
2 papers
NM_004586.3
p.G213D
c.638G>A
1 paper
NM_004586.3
p.K216E
c.646A>G
1 paper
NM_004586.3
p.E217K
c.649G>A
1 paper
NM_004586.3
p.S215_K216delFs
c.645_648del4
4 papers
NM_004586.3
p.D211Splc
c.632-1G>T
1 paper
NM_004586.3
p.D211H
c.631G>C
1 paper
NM_004586.3
p.D211Splc
c.632-1G>A
1 paper
NM_004586.3
p.D211Splc
c.632-2A>G
1 paper
NM_004586.3
p.K224*
c.670A>T
4 papers
NM_004586.3
p.A225V
c.674C>T
1 paper
NM_004586.3
p.Y226N
c.676T>A
13 papers
NM_004586.3
p.S227A
c.679T>G
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