Varaico: Literature-Extracted Genetic Variants

RPS6KA2

84 papers

RefSeq Summary

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, i...

Pfam Domains

Pkinaseaa 59–318UCSCProtein kinase domain

Pkinase_Caa 342–378UCSCProtein kinase C terminal domain

Pkinaseaa 415–672UCSCProtein kinase domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase A2

HGNC Alias Symbols

RSK3; HU-2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 83 variants

2 papers

NM_021135.6

p.S218A

c.652T>G

2 papers

NM_021135.6

p.H371Y

c.1111C>T

2 papers

NM_021135.6

p.L472R

c.1415T>G

2 papers

NM_021135.6

p.L513L

c.1539G>A

1 paper

NM_001006932.3

p.M1insFs

c.3dupG

1 paper

NM_001006932.3

p.E21Q

c.61G>C

1 paper

NM_021135.6

p.K7R

c.20A>G

1 paper

NM_021135.6

p.R12M

c.35G>T

1 paper

NM_021135.6

p.F14del1

c.40_41delGAA

1 paper

NM_021135.6

p.K25K

c.75G>A

1 paper

NM_021135.6

p.E33_E34Splc

c.99+29459C>T

1 paper

NM_021135.6

p.G36G

c.108C>T