Varaico: Literature-Extracted Genetic Variants

CDC42BPB

133 papers

RefSeq Summary

This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this p...

Pfam Domains

Pkinaseaa 76–342UCSCProtein kinase domain

KELKaa 527–606UCSCKELK-motif containing domain of MRCK Ser/Thr protein kinase

DMPK_coilaa 878–939UCSCDMPK coiled coil domain like

C1_1aa 1026–1078UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

PH_MRCKaa 1089–1215UCSCMRCK kinase PH domain

CNHaa 1250–1509UCSCCNH domain

Gene Aliases

HGNC Name

CDC42 binding protein kinase beta

HGNC Alias Symbols

MRCKB; KIAA1124

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006035.4

p.R555Q

c.1664G>A

Surrounding Variants

1 paper

NM_006035.4

p.A560S

c.1678G>T

1 paper

NM_006035.4

p.H567Y

c.1699C>T

1 paper

NM_006035.4

p.Q568H

c.1704G>T

1 paper

NM_006035.4

p.Q568H

c.1704G>C

3 papers

NM_006035.4

p.R570Q

c.1709G>A

1 paper

NM_006035.4

p.R583C

c.1747C>T

1 paper

NM_006035.4

p.E586A

c.1757A>C

1 paper

NM_006035.4

p.A589S

c.1765G>T

1 paper

NM_006035.4

p.R596W

c.1786C>T

1 paper

NM_006035.4

p.E623K

c.1867G>A

1 paper

NM_006035.4

p.E544insFs

c.1630dupG

1 paper

NM_006035.4

p.R647C

c.1939C>T