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.I202V

c.604A>G

Surrounding Variants

2 papers

NM_001394014.1

p.K203K

c.609A>G

1 paper

NM_001394014.1

p.N212S

c.635A>G

1 paper

NM_001394014.1

p.D210_G213delFs

c.630_639del10

1 paper

NM_001394014.1

p.L224Q

c.671T>A

1 paper

NM_001394014.1

p.T231M

c.692C>T

1 paper

NM_001394014.1

p.G230_T231del2

c.688_692del6