Varaico: Literature-Extracted Genetic Variants

MMACHC

605 papers

RefSeq Summary

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin...

Pfam Domains

MMACHCaa 1–177UCSCMethylmalonic aciduria and homocystinuria type C family

MMACHCaa 20–234UCSCMethylmalonic aciduria and homocystinuria type C family

Gene Aliases

HGNC Name

metabolism of cobalamin associated C

HGNC Alias Symbol

DKFZP564I122

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015506.3

p.P25S

c.73C>T

Surrounding Variants

1 paper

NM_015506.3

p.Y24*

c.72C>A

1 paper

NM_015506.3

p.Y24*

c.72C>G

1 paper

NM_015506.3

p.P25_F26delFs

c.73_77del5

1 paper

NM_015506.3

p.V23I

c.67G>A

1 paper

NM_015506.3

p.V23F

c.67G>T

1 paper

NM_015506.3

p.Y24delFs

c.70delT

104 papers

NM_015506.3

p.Q27R

c.80A>G

1 paper

NM_015506.3

p.Q27Q

c.81G>A

17 papers

NM_015506.3

p.Q27_V28Splc

c.81+1G>A

1 paper

NM_015506.3

p.Q27_V28Splc

c.81+1G>T

1 paper

NM_015506.3

p.Q27_V28Splc

c.81+2T>C

2 papers

NM_015506.3

p.Q27_V28Splc

c.81+2T>G