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.V198M

c.592G>A

Surrounding Variants

1 paper

NM_001823.5

p.L193fs

c.577_578fs

1 paper

NM_001823.5

p.E183E

c.549G>A

1 paper

NM_001823.5

p.A182S

c.544G>T

3 papers

NM_001823.5

p.K177R

c.530A>G

2 papers

NM_001823.5

p.R172R

c.516A>G

2 papers

NM_001823.5

p.R172R

c.516A>C

2 papers

NM_001823.5

p.R172P

c.515G>C

2 papers

NM_001823.5

p.R172G

c.514C>G

1 paper

NM_001823.5

p.R152H

c.455G>A

1 paper

NM_001823.5

p.P144_H145del0

c.430_435del6

1 paper

NM_001823.5

p.H145Q

c.435C>G

1 paper

NM_001823.5

p.H145Q

c.435C>A