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.P1373L

c.4118C>T

Surrounding Variants

2 papers

NM_006035.4

p.Q1377R

c.4130A>G

3 papers

NM_006035.4

p.N1368K

c.4104T>G

3 papers

NM_006035.4

p.N1368K

c.4104T>A

1 paper

NM_006035.4

p.R1383K

c.4148G>A

1 paper

NM_006035.4

p.Y1355*

c.4065T>G

1 paper

NM_006035.4

p.Y1355*

c.4065T>A

2 papers

NM_006035.4

p.R1350P

c.4049G>C

2 papers

NM_006035.4

p.R1350Q

c.4049G>A

1 paper

NM_006035.4

p.T1333M

c.3998C>T

1 paper

NM_006035.4

p.S1415L

c.4244C>T

1 paper

NM_006035.4

p.S1415S

c.4245G>T

2 papers

NM_006035.4

p.L1416insFs

c.4247_4248insGC