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

1–12 of 70 variants

7 papers

NM_001824.5

p.E83G

c.248A>G

4 papers

NM_001824.5

p.T166M

c.497C>T

3 papers

NM_001824.5

p.R43Q

c.128G>A

3 papers

NM_001824.5

p.T180M

c.539C>T

2 papers

NM_001824.5

p.T35I

c.104C>T

2 papers

NM_001824.5

p.D54G

c.161A>G

2 papers

NM_001824.5

p.C74S

c.220T>A

2 papers

NM_001824.5

p.C74S

c.221G>C

2 papers

NM_001824.5

p.I92M

c.276C>G

2 papers

NM_001824.5

p.R96P

c.287G>C

2 papers

NM_001824.5

p.H97Y

c.289C>T

2 papers

NM_001824.5

p.L127V

c.379C>G