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.Y173C

c.518A>G

Surrounding Variants

2 papers

NM_001824.5

p.F169L

c.507C>G

2 papers

NM_001824.5

p.F169L

c.507C>A

2 papers

NM_001824.5

p.F169L

c.505T>C

4 papers

NM_001824.5

p.T166M

c.497C>T

3 papers

NM_001824.5

p.T180M

c.539C>T

1 paper

NM_001824.5

p.K182Q

c.544A>C

1 paper

NM_001824.5

p.R209H

c.626G>A

2 papers

NM_001824.5

p.W211R

c.631T>C

2 papers

NM_001824.5

p.W211R

c.631T>A

1 paper

NM_001824.5

p.F225L

c.673T>C

2 papers

NM_001824.5

p.R236Q

c.707G>A

1 paper

NM_001824.5

p.G243V

c.728G>T