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.E348K

c.1042G>A

Surrounding Variants

1 paper

NM_001823.5

p.R341H

c.1022G>A

1 paper

NM_001823.5

p.R341C

c.1021C>T

1 paper

NM_001823.5

p.D340H

c.1018G>C

1 paper

NM_001823.5

p.G356E

c.1067G>A

1 paper

NM_001823.5

p.L360F

c.1078C>T

2 papers

NM_001823.5

p.I361T

c.1082T>C

2 papers

NM_001823.5

p.A329V

c.986C>T

2 papers

NM_001823.5

p.E368G

c.1103A>G

2 papers

NM_001823.5

p.T327R

c.980C>G

1 paper

NM_001823.5

p.D326A

c.977A>C

1 paper

NM_001823.5

p.G370S

c.1108G>A

1 paper

NM_001823.5

p.M377L

c.1129A>T