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.Q143_R144Splc

c.429+1G>C

Surrounding Variants

1 paper

NM_015506.3

p.Q143_R144Splc

c.429+1G>T

1 paper

NM_015506.3

p.Q143R

c.428A>G

6 papers

NM_015506.3

p.Q143*

c.427C>T

1 paper

NM_015506.3

p.N142K

c.426C>A

1 paper

NM_015506.3

p.N142K

c.426C>G

5 papers

NM_015506.3

p.N142D

c.424A>G

2 papers

NM_015506.3

p.G141R

c.421G>A

2 papers

NM_015506.3

p.W140*

c.420G>A

2 papers

NM_015506.3

p.W140*

c.419G>A

1 paper

NM_015506.3

p.D138insFs

c.413dupA

1 paper

NM_015506.3

p.A137G

c.410C>G

1 paper

NM_015506.3

p.A137V

c.410C>T