Varaico: Literature-Extracted Genetic Variants

DMGDH

104 papers

RefSeq Summary

This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial ma...

Pfam Domains

DAOaa 51–414UCSCFAD dependent oxidoreductase

FAO_Maa 417–471UCSCFAD dependent oxidoreductase central domain

GCV_Taa 474–750UCSCGCVT N-terminal domain

GCV_T_Caa 770–848UCSCGlycine cleavage T-protein C-terminal barrel domain

Gene Aliases

HGNC Name

dimethylglycine dehydrogenase

HGNC Alias Symbol

ME2GLYDH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_013391.3

p.R301*

c.901C>T

Surrounding Variants

4 papers

NM_013391.3

p.L300F

c.898C>T

1 paper

NM_013391.3

p.Y298S

c.893A>C

1 paper

NM_013391.3

p.E295K

c.883G>A

2 papers

NM_013391.3

p.R292C

c.874C>T

1 paper

NM_013391.3

p.L288L

c.864G>C

1 paper

NM_013391.3

p.R286*

c.856C>T

1 paper

NM_013391.3

p.M318K

c.953T>A

1 paper

NM_013391.3

p.V320A

c.959T>C

4 papers

NM_013391.3

p.S279P

c.835T>C

3 papers

NM_013391.3

p.W324*

c.971G>A

3 papers

NM_013391.3

p.W324*

c.972G>A

1 paper

NM_013391.3

p.P331S

c.991C>T