Varaico: Literature-Extracted Genetic Variants

CKMT2

39 papers

RefSeq Summary

Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. ...

Pfam Domains

ATP-gua_PtransNaa 58–128UCSCATP:guanido phosphotransferase, N-terminal domain

ATP-gua_Ptransaa 187–401UCSCATP:guanido phosphotransferase, C-terminal catalytic domain

Gene Aliases

HGNC Name

creatine kinase, mitochondrial 2

HGNC Alias Symbol

SMTCK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001099735.2

p.R172P

c.515G>C

Surrounding Variants

2 papers

NM_001099735.2

p.R172G

c.514C>G

1 paper

NM_001099735.2

p.R166C

c.496C>T

1 paper

NM_001099735.2

p.E184K

c.550G>A

1 paper

NM_001099735.2

p.Y159Y

c.477C>T

1 paper

NM_001099735.2

p.E157K

c.469G>A

1 paper

NM_001099735.2

p.A192V

c.575C>T

1 paper

NM_001099735.2

p.L221_I222insA

c.661_665ins3

1 paper

NM_001099735.2

p.S148*

c.443C>A

1 paper

NM_001099735.2

p.S148*

c.443C>G

1 paper

NM_001099735.2

p.T93S

c.278C>G

1 paper

NM_001099735.2

p.T86M

c.257C>T

1 paper

NM_001099735.2

p.L76_V80delFs

c.228_238del11