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

1 paper

NM_001824.5

p.F225L

c.673T>C

Surrounding Variants

2 papers

NM_001824.5

p.R236Q

c.707G>A

1 paper

NM_001824.5

p.G243V

c.728G>T

1 paper

NM_001824.5

p.F250S

c.749T>C

1 paper

NM_001824.5

p.R251P

c.752G>C

1 paper

NM_001824.5

p.R251H

c.752G>A

1 paper

NM_001824.5

p.C254R

c.760T>C

1 paper

NM_001824.5

p.N274Y

c.820A>T

1 paper

NM_001824.5

p.Q275E

c.823C>G

1 paper

NM_001824.5

p.H276N

c.826C>A

2 papers

NM_001824.5

p.V280L

c.838G>T

2 papers

NM_001824.5

p.V280L

c.838G>C

1 paper

NM_001824.5

p.V280M

c.838G>A