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

1 paper

NM_001394014.1

p.G292R

c.874G>C

Surrounding Variants

1 paper

NM_001394014.1

p.G292R

c.874G>A

2 papers

NM_001394014.1

p.G292E

c.875G>A

1 paper

NM_001394014.1

p.Y277Y

c.831C>T

1 paper

NM_001394014.1

p.L268F

c.804G>T

1 paper

NM_001394014.1

p.L268F

c.804G>C

1 paper

NM_001394014.1

p.W265*

c.795G>A

1 paper

NM_001394014.1

p.W265*

c.794G>A

1 paper

NM_001394014.1

p.E247K

c.739G>A

1 paper

NM_001394014.1

p.T240A

c.718A>G

1 paper

NM_001394014.1

p.G239E

c.716G>A

1 paper

NM_001394014.1

p.S234A

c.700T>G

1 paper

NM_001394014.1

p.I318N

c.953T>A