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.H396R

c.1187A>G

Surrounding Variants

1 paper

NM_001394014.1

p.T403A

c.1207A>G

1 paper

NM_001394014.1

p.T388fs

c.1162_1163fs

3 papers

NM_001394014.1

p.T383M

c.1148C>T

1 paper

NM_001394014.1

p.S381_E382Splc

c.1143+15G>C

1 paper

NM_001394014.1

p.D374N

c.1120G>A

1 paper

NM_001394014.1

p.P341S

c.1021C>T

1 paper

NM_001394014.1

p.K338*

c.1012A>T

1 paper

NM_001394014.1

p.R328R

c.984A>C

1 paper

NM_001394014.1

p.I318N

c.953T>A

1 paper

NM_001394014.1

p.D428Y

c.1282G>T

1 paper

NM_001394014.1

p.K461K

c.1383A>G

2 papers

NM_001394014.1

p.G292E

c.875G>A