Varaico: Literature-Extracted Genetic Variants

RPS6KA4

121 papers

RefSeq Summary

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

Pfam Domains

Pkinaseaa 33–301UCSCProtein kinase domain

Pkinase_Caa 322–361UCSCProtein kinase C terminal domain

Pkinaseaa 412–674UCSCProtein kinase domain

Gene Aliases

HGNC Name

ribosomal protein S6 kinase A4

HGNC Alias Symbols

RSK-B; MSK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003942.3

p.R529H

c.1586G>A

Surrounding Variants

1 paper

NM_003942.3

p.R529C

c.1585C>T

1 paper

NM_003942.3

p.L531I

c.1591C>A

1 paper

NM_003942.3

p.V517M

c.1549G>A

1 paper

NM_003942.3

p.I509M

c.1527C>G

1 paper

NM_003942.3

p.E505V

c.1514A>T

1 paper

NM_003942.3

p.E505*

c.1513G>T

1 paper

NM_003942.3

p.E503K

c.1507G>A

1 paper

NM_003942.3

p.E503*

c.1507G>T

1 paper

NM_003942.3

p.K498M

c.1493A>T

1 paper

NM_003942.3

p.K497T

c.1490A>C

1 paper

NM_003942.3

p.R496C

c.1486C>T

1 paper

NM_003942.3

p.A539S

c.1615G>T