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.N295Y

c.883A>T

Surrounding Variants

1 paper

NM_006035.4

p.H296Y

c.886C>T

2 papers

NM_006035.4

p.I293M

c.879C>G

1 paper

NM_006035.4

p.T279M

c.836C>T

1 paper

NM_006035.4

p.D241H

c.721G>C

1 paper

NM_006035.4

p.V235A

c.704T>C

1 paper

NM_006035.4

p.V235M

c.703G>A

1 paper

NM_006035.4

p.Q232*

c.694C>T

1 paper

NM_006035.4

p.R299*

c.895C>T

1 paper

NM_006035.4

p.F300_Q301delins

c.900_901delinsTT

1 paper

NM_006035.4

p.L328P

c.983T>C

1 paper

NM_006035.4

p.E343delFs

c.1029delT

1 paper

NM_006035.4

p.A355E

c.1064C>A