Varaico: Literature-Extracted Genetic Variants

CKB

73 papers

RefSeq Summary

The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as ...

Pfam Domains

ATP-gua_PtransNaa 24–94UCSCATP:guanido phosphotransferase, N-terminal domain

ATP-gua_Ptransaa 153–367UCSCATP:guanido phosphotransferase, C-terminal catalytic domain

Gene Aliases

HGNC Name

creatine kinase B

HGNC Previous Symbol

CKBB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001823.5

p.T59I

c.176C>T

Surrounding Variants

1 paper

NM_001823.5

p.P64A

c.190C>G

1 paper

NM_001823.5

p.D54G

c.161A>G

1 paper

NM_001823.5

p.P36T

c.106C>A

1 paper

NM_001823.5

p.N27D

c.79A>G

1 paper

NM_001823.5

p.H26Y

c.76C>T

1 paper

NM_001823.5

p.A25T

c.73G>A

1 paper

NM_001823.5

p.G65fs

c.193_194fs

1 paper

NM_001823.5

p.G65delFs

c.194delC

1 paper

NM_001823.5

p.P67Q

c.200C>A

1 paper

NM_001823.5

p.T71A

c.211A>G

2 papers

NM_001823.5

p.C74S

c.220T>A

2 papers

NM_001823.5

p.C74S

c.221G>C