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

4 papers

NM_001823.5

p.C283S

c.847T>A

Surrounding Variants

4 papers

NM_001823.5

p.C283S

c.848G>C

1 paper

NM_001823.5

p.L287M

c.859C>A

2 papers

NM_001823.5

p.R292Q

c.875G>A

2 papers

NM_001823.5

p.H296R

c.887A>G

2 papers

NM_001823.5

p.H296P

c.887A>C

2 papers

NM_001823.5

p.H296Q

c.888T>G

1 paper

NM_001823.5

p.Y269C

c.806A>G

2 papers

NM_001823.5

p.D268H

c.802G>C

1 paper

NM_001823.5

p.D268N

c.802G>A

2 papers

NM_001823.5

p.K267E

c.799A>G

2 papers

NM_001823.5

p.P300L

c.899C>T

1 paper

NM_001823.5

p.P300H

c.899C>A