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.E752K

c.2254G>A

Surrounding Variants

1 paper

NM_006035.4

p.Y762Y

c.2286C>T

6 papers

NM_006035.4

p.R764*

c.2290C>T

1 paper

NM_006035.4

p.A728delFs

c.2184delG

1 paper

NM_006035.4

p.L729fs

c.2185_2186fs

1 paper

NM_006035.4

p.R704H

c.2111G>A

1 paper

NM_006035.4

p.E682Q

c.2044G>C

2 papers

NM_006035.4

p.R671Q

c.2012G>A

1 paper

NM_006035.4

p.V666G

c.1997T>G

1 paper

NM_006035.4

p.N794N

c.2382T>C

1 paper

NM_006035.4

p.S810L

c.2429C>T

1 paper

NM_006035.4

p.R647C

c.1939C>T

1 paper

NM_006035.4

p.E847K

c.2539G>A