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.L1520L

c.4560A>G

Surrounding Variants

1 paper

NM_001394014.1

p.T1527S

c.4579A>T

1 paper

NM_001394014.1

p.L1514V

c.4540T>G

1 paper

NM_001394014.1

p.A1538T

c.4612G>A

1 paper

NM_001394014.1

p.L1506F

c.4516C>T

1 paper

NM_001394014.1

p.V1486V

c.4458G>A

1 paper

NM_001394014.1

p.S1463delFs

c.4388_4389delAG

1 paper

NM_001394014.1

p.A1428delFs

c.4283_4284delTG

1 paper

NM_001394014.1

p.C1362_Y1363ins1

c.4086_4087insTGT

1 paper

NM_001394014.1

p.C1362ins1

c.4084_4085insTTT

1 paper

NM_001394014.1

p.K1357Q

c.4069A>C

1 paper

NM_001394014.1

p.A1355T

c.4063G>A

1 paper

NM_001394014.1

p.G1347delFs

c.4040_4041delTC