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

1–12 of 162 variants

6 papers

NM_006035.4

p.R764*

c.2290C>T

3 papers

NM_006035.4

p.D175Y

c.523G>T

3 papers

NM_006035.4

p.E486_I487delFs

c.1456_1459del4

3 papers

NM_006035.4

p.R570Q

c.1709G>A

3 papers

NM_006035.4

p.A1117T

c.3349G>A

3 papers

NM_006035.4

p.N1368K

c.4104T>G

3 papers

NM_006035.4

p.N1368K

c.4104T>A

2 papers

NM_006035.4

p.A142T

c.424G>A

2 papers

NM_006035.4

p.I293M

c.879C>G

2 papers

NM_006035.4

p.E486fs

c.1456_1457fs

2 papers

NM_006035.4

p.R518C

c.1552C>T

2 papers

NM_006035.4

p.R671Q

c.2012G>A