Varaico: Literature-Extracted Genetic Variants

RPS6KB2

174 papers

RefSeq Summary

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryoti...

Pfam Domains

Pkinaseaa 67–328UCSCProtein kinase domain

Pkinase_Caa 349–389UCSCProtein kinase C terminal domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase B2

HGNC Alias Symbols

p70S6Kb; P70-BETA; STK14B; KLS; S6KB; S6Kbeta; S6Kβ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003952.3

p.H44R

c.131A>G

Surrounding Variants

1 paper

NM_003952.3

p.H44Y

c.130C>T

1 paper

NM_003952.3

p.G43G

c.129A>C

1 paper

NM_003952.3

p.G43_H44ins6

c.127_131ins18

1 paper

NM_003952.3

p.E47K

c.139G>A

1 paper

NM_003952.3

p.V48L

c.142G>C

1 paper

NM_003952.3

p.V55A

c.164T>C

1 paper

NM_003952.3

p.N56Y

c.166A>T

1 paper

NM_003952.3

p.G58D

c.173G>A

1 paper

NM_003952.3

p.G63fs

c.187_188fs

1 paper

NM_003952.3

p.G63E

c.188G>A

1 paper

NM_003952.3

p.P64S

c.190C>T

1 paper

NM_003952.3

p.P64L

c.191C>T