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

5 papers

NM_002953.4

p.K335T

c.1004A>C

Surrounding Variants

2 papers

NM_002953.4

p.R332C

c.994C>T

4 papers

NM_002953.4

p.Q344P

c.1031A>C

1 paper

NM_002953.4

p.E354K

c.1060G>A

1 paper

NM_002953.4

p.R317Q

c.950G>A

1 paper

NM_002953.4

p.P309L

c.926C>T

1 paper

NM_002953.4

p.A295V

c.884C>T

1 paper

NM_002953.4

p.A277A

c.831G>A

1 paper

NM_002953.4

p.S363A

c.1087T>G

1 paper

NM_002953.4

p.P367R

c.1100C>G

1 paper

NM_002953.4

p.L375P

c.1124T>C

1 paper

NM_002953.4

p.F381_V382del2

c.1141_1145del6

1 paper

NM_002953.4

p.R394L

c.1181G>T