Varaico: Literature-Extracted Genetic Variants

CKMT1A

22 papers

RefSeq Summary

Mitochondrial creatine (MtCK) kinase 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 57–127UCSCATP:guanido phosphotransferase, N-terminal domain

ATP-gua_Ptransaa 186–400UCSCATP:guanido phosphotransferase, C-terminal catalytic domain

Gene Aliases

HGNC Name

creatine kinase, mitochondrial 1A

HGNC Previous Symbol

CKMT1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 13 variants

3 papers

NM_001321926.2

p.R398W

c.1192C>T

1 paper

NM_001321926.2

p.M1insFs

c.2dupT

1 paper

NM_001321926.2

p.R74insFs

c.221_222insA

1 paper

NM_001321926.2

p.C76_T80delFs

c.228_238del11

1 paper

NM_001321926.2

p.R189insFs

c.566dupG

1 paper

NM_001321926.2

p.L209F

c.625C>T

1 paper

NM_001321926.2

p.I221_D222insA

c.661_665ins3

1 paper

NM_001321926.2

p.D228A

c.683A>C

1 paper

NM_001321926.2

p.V270delFs

c.808_809delGT

1 paper

NM_001321926.2

p.K337_D338Splc

c.1012-8C>T

1 paper

NM_001321926.2

p.L382delFs

c.1146delG

1 paper

NM_001321926.2

p.V390delFs

c.1168_1169delGT