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.L540I

c.1618T>A

Surrounding Variants

1 paper

NM_001394014.1

p.I537M

c.1611C>G

1 paper

NM_001394014.1

p.K535T

c.1604A>C

1 paper

NM_001394014.1

p.K549R

c.1646A>G

1 paper

NM_001394014.1

p.H508Q

c.1524T>A

1 paper

NM_001394014.1

p.V552I

c.1654G>A

1 paper

NM_001394014.1

p.D567D

c.1701C>T

1 paper

NM_001394014.1

p.L574L

c.1722G>A

1 paper

NM_001394014.1

p.E588A

c.1763A>C

1 paper

NM_001394014.1

p.Q592K

c.1774C>A

1 paper

NM_001394014.1

p.V600D

c.1799T>A

1 paper

NM_001394014.1

p.R601Q

c.1802G>A

1 paper

NM_001394014.1

p.L609L

c.1825C>T