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.T71A

c.211A>G

Surrounding Variants

2 papers

NM_001823.5

p.C74S

c.220T>A

2 papers

NM_001823.5

p.C74S

c.221G>C

1 paper

NM_001823.5

p.P67Q

c.200C>A

1 paper

NM_001823.5

p.G65delFs

c.194delC

1 paper

NM_001823.5

p.G65fs

c.193_194fs

1 paper

NM_001823.5

p.I93T

c.278T>C

2 papers

NM_001823.5

p.R96P

c.287G>C

1 paper

NM_001823.5

p.K101Q

c.301A>C

1 paper

NM_001823.5

p.P102P

c.306C>G

1 paper

NM_001823.5

p.P64A

c.190C>G

1 paper

NM_001823.5

p.T59I

c.176C>T

1 paper

NM_001823.5

p.D54G

c.161A>G