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.T30T

c.90A>G

Surrounding Variants

1 paper

NM_001394014.1

p.T30delFs

c.89delG

2 papers

NM_001394014.1

p.Q24*

c.70C>T

1 paper

NM_001394014.1

p.D16H

c.46G>C

1 paper

NM_001394014.1

p.E50K

c.148G>A

1 paper

NM_001394014.1

p.L10S

c.29T>C

1 paper

NM_001394014.1

p.A60Splc

c.178+4102A>G