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

1–12 of 77 variants

4 papers

NM_001823.5

p.C283S

c.847T>A

4 papers

NM_001823.5

p.C283S

c.848G>C

3 papers

NM_001823.5

p.K177R

c.530A>G

3 papers

NM_001823.5

p.S309L

c.926C>T

2 papers

NM_001823.5

p.C74S

c.220T>A

2 papers

NM_001823.5

p.C74S

c.221G>C

2 papers

NM_001823.5

p.R96P

c.287G>C

2 papers

NM_001823.5

p.S128R

c.382A>C

2 papers

NM_001823.5

p.S128R

c.384C>G

2 papers

NM_001823.5

p.S128R

c.384C>A

2 papers

NM_001823.5

p.R132H

c.395G>A

2 papers

NM_001823.5

p.R172G

c.514C>G