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.E113D

c.339A>T

Surrounding Variants

1 paper

NM_001824.5

p.E113D

c.339A>C

1 paper

NM_001824.5

p.L115L

c.345C>G

1 paper

NM_001824.5

p.K105E

c.313A>G

1 paper

NM_001824.5

p.G98E

c.293G>A

2 papers

NM_001824.5

p.H97Y

c.289C>T

2 papers

NM_001824.5

p.R96P

c.287G>C

1 paper

NM_001824.5

p.R96C

c.286C>T

2 papers

NM_001824.5

p.I92M

c.276C>G

1 paper

NM_001824.5

p.E83E

c.249A>G

7 papers

NM_001824.5

p.E83G

c.248A>G

1 paper

NM_001824.5

p.E79G

c.236A>G

1 paper

NM_001824.5

p.D78E

c.234T>G