Varaico: Literature-Extracted Genetic Variants

CDC42BPA

132 papers

RefSeq Summary

The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotoni...

Pfam Domains

Pkinaseaa 77–343UCSCProtein kinase domain

Pkinase_Caa 362–404UCSCProtein kinase C terminal domain

KELKaa 529–608UCSCKELK-motif containing domain of MRCK Ser/Thr protein kinase

DMPK_coilaa 881–941UCSCDMPK coiled coil domain like

C1_1aa 1064–1116UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

PH_MRCKaa 1127–1253UCSCMRCK kinase PH domain

Gene Aliases

HGNC Name

CDC42 binding protein kinase alpha

HGNC Alias Symbols

MRCKA; PK428; FLJ23347; KIAA0451; MRCKalpha

Papers

RefSeq ID

Protein change

DNA change

1–12 of 141 variants

4 papers

NM_001394014.1

p.V1304M

c.3910G>A

3 papers

NM_001394014.1

p.T383M

c.1148C>T

3 papers

NM_001394014.1

p.M1605V

c.4813A>G

2 papers

NM_001394014.1

p.Q24*

c.70C>T

2 papers

NM_001394014.1

p.T30T

c.90A>G

2 papers

NM_001394014.1

p.K203K

c.609A>G

2 papers

NM_001394014.1

p.G292E

c.875G>A

2 papers

NM_001394014.1

p.D478A

c.1433A>C

2 papers

NM_001394014.1

p.Y790C

c.2369A>G

2 papers

NM_001394014.1

p.K913K

c.2739A>G

1 paper

NM_001394014.1

p.L10S

c.29T>C

1 paper

NM_001394014.1

p.D16H

c.46G>C