Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.V82delFs

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.V82delFs
c.245delA
Surrounding Variants
3 papers
NM_004586.3
p.V85F
c.253G>T
3 papers
NM_004586.3
p.V82F
c.244G>T
3 papers
NM_004586.3
p.V85_K86insFs
c.255_256insA
1 paper
NM_004586.3
p.K81_V82Splc
c.244-1G>A
1 paper
NM_004586.3
p.K81_V82Splc
c.244-2A>G
6 papers
NM_004586.3
p.I88insFs
c.262_263insA
1 paper
NM_004586.3
p.K86delFs
c.256delT
1 paper
NM_004586.3
p.I88insFs
c.263dupT
1 paper
NM_004586.3
p.I88fs
c.262_263fs
1 paper
NM_004586.3
p.S89fs
c.265_266fs
1 paper
NM_004586.3
p.S89*
c.266C>G
1 paper
NM_004586.3
p.S89*
c.266C>A
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