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.T1179M

c.3536C>T

Surrounding Variants

1 paper

NM_006035.4

p.S1236L

c.3707C>T

1 paper

NM_006035.4

p.L1262F

c.3784C>T

1 paper

NM_006035.4

p.P1173P

c.3519A>G

1 paper

NM_006035.4

p.A1161T

c.3481G>A

1 paper

NM_006035.4

p.V1156M

c.3466G>A

1 paper

NM_006035.4

p.E1153K

c.3457G>A

1 paper

NM_006035.4

p.A1276P

c.3826G>C

1 paper

NM_006035.4

p.R1299W

c.3895C>T

2 papers

NM_006035.4

p.R1299Q

c.3896G>A

1 paper

NM_006035.4

p.Y1306C

c.3917A>G

1 paper

NM_006035.4

p.C1297_Y1306del0

c.3890_3916del27

1 paper

NM_006035.4

p.P1307L

c.3920C>T