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.L142F

c.424C>T

Surrounding Variants

1 paper

NM_001823.5

p.H145Q

c.435C>G

1 paper

NM_001823.5

p.H145Q

c.435C>A

1 paper

NM_001823.5

p.P144_H145del0

c.430_435del6

2 papers

NM_001823.5

p.R132H

c.395G>A

1 paper

NM_001823.5

p.R152H

c.455G>A

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.S128R

c.382A>C

1 paper

NM_001823.5

p.D122N

c.364G>A

1 paper

NM_001823.5

p.P102P

c.306C>G

1 paper

NM_001823.5

p.K101Q

c.301A>C

2 papers

NM_001823.5

p.R96P

c.287G>C