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

Selected Variant

2 papers

NM_001394014.1

p.Y790C

c.2369A>G

Surrounding Variants

1 paper

NM_001394014.1

p.E803K

c.2407G>A

1 paper

NM_001394014.1

p.I825L

c.2473A>C

1 paper

NM_001394014.1

p.K844R

c.2531A>G

1 paper

NM_001394014.1

p.E848G

c.2543A>G

1 paper

NM_001394014.1

p.L857L

c.2569T>C

1 paper

NM_001394014.1

p.D875H

c.2623G>C

1 paper

NM_001394014.1

p.R891K

c.2672G>A

2 papers

NM_001394014.1

p.K913K

c.2739A>G

1 paper

NM_001394014.1

p.E929K

c.2785G>A

1 paper

NM_001394014.1

p.K942K

c.2826G>A