Varaico: Literature-Extracted Genetic Variants

CKM

52 papers

RefSeq Summary

The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfe...

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, M-type

HGNC Previous Symbol

CKMM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001824.5

p.S128R

c.384C>A

Surrounding Variants

2 papers

NM_001824.5

p.S128R

c.384C>G

2 papers

NM_001824.5

p.S128R

c.382A>C

2 papers

NM_001824.5

p.R130H

c.389G>A

2 papers

NM_001824.5

p.L127V

c.379C>G

2 papers

NM_001824.5

p.R132C

c.394C>T

2 papers

NM_001824.5

p.R132H

c.395G>A

1 paper

NM_001824.5

p.S136R

c.408C>A

1 paper

NM_001824.5

p.E155K

c.463G>A

1 paper

NM_001824.5

p.L115L

c.345C>G

1 paper

NM_001824.5

p.E113D

c.339A>T

1 paper

NM_001824.5

p.E113D

c.339A>C

1 paper

NM_001824.5

p.K105E

c.313A>G