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.V446I

c.1336G>A

Surrounding Variants

1 paper

NM_002953.4

p.R434H

c.1301G>A

1 paper

NM_002953.4

p.R434P

c.1301G>C

1 paper

NM_002953.4

p.S430fs

c.1288_1289fs

1 paper

NM_002953.4

p.V426M

c.1276G>A

1 paper

NM_002953.4

p.K421N

c.1263G>C

1 paper

NM_002953.4

p.K421N

c.1263G>T

1 paper

NM_002953.4

p.V419M

c.1255G>A

1 paper

NM_002953.4

p.Y418Y

c.1254C>T

1 paper

NM_002953.4

p.N411S

c.1232A>G

1 paper

NM_002953.4

p.D450D

c.1350T>C

1 paper

NM_002953.4

p.K451M

c.1352A>T

1 paper

NM_002953.4

p.K451N

c.1353G>C