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.T52N

c.155C>A

Surrounding Variants

2 papers

NM_001824.5

p.D54G

c.161A>G

1 paper

NM_001824.5

p.D55N

c.163G>A

3 papers

NM_001824.5

p.R43Q

c.128G>A

1 paper

NM_001824.5

p.K40N

c.120G>T

1 paper

NM_001824.5

p.E37D

c.111A>C

1 paper

NM_001824.5

p.L36P

c.107T>C

2 papers

NM_001824.5

p.T35I

c.104C>T

2 papers

NM_001824.5

p.C74S

c.220T>A

2 papers

NM_001824.5

p.C74S

c.221G>C

1 paper

NM_001824.5

p.D78E

c.234T>G

1 paper

NM_001824.5

p.E79G

c.236A>G

7 papers

NM_001824.5

p.E83G

c.248A>G