Varaico: Literature-Extracted Genetic Variants

RPS6KA1

150 papers

RefSeq Summary

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, incl...

Pfam Domains

Pkinaseaa 62–321UCSCProtein kinase domain

Pkinase_Caa 342–381UCSCProtein kinase C terminal domain

Pkinaseaa 418–675UCSCProtein kinase domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase A1

HGNC Alias Symbols

RSK1; HU-1; p90Rsk; MAPKAPK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002953.4

p.V95L

c.283G>C

Surrounding Variants

1 paper

NM_002953.4

p.A99V

c.296C>T

1 paper

NM_002953.4

p.H89Y

c.265C>T

1 paper

NM_002953.4

p.G88R

c.262G>A

1 paper

NM_002953.4

p.K102_V103delFs

c.306_307delAG

1 paper

NM_002953.4

p.D86H

c.256G>C

2 papers

NM_002953.4

p.V82A

c.245T>C

1 paper

NM_002953.4

p.V82F

c.244G>T

1 paper

NM_002953.4

p.R80W

c.238C>T

1 paper

NM_002953.4

p.S72A

c.214T>G

1 paper

NM_002953.4

p.H61Q

c.183T>A

1 paper

NM_002953.4

p.D58E

c.174T>A

1 paper

NM_002953.4

p.E55K

c.163G>A