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.R409H

c.1226G>A

Surrounding Variants

1 paper

NM_003952.3

p.K407E

c.1219A>G

1 paper

NM_003952.3

p.K407*

c.1219A>T

1 paper

NM_003952.3

p.P406L

c.1217C>T

1 paper

NM_003952.3

p.S403P

c.1207T>C

1 paper

NM_003952.3

p.E400G

c.1199A>G

1 paper

NM_003952.3

p.R419fs

c.1255_1256fs

1 paper

NM_003952.3

p.R419_A420Fs

c.1255_1259delinsGGGTFs

7 papers

NM_003952.3

p.A420V

c.1259C>T

1 paper

NM_003952.3

p.P421T

c.1261C>A

1 paper

NM_003952.3

p.V422I

c.1264G>A

1 paper

NM_003952.3

p.P392P

c.1176G>A

1 paper

NM_003952.3

p.A391V

c.1172C>T