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_001330540.2

p.S222S

c.666C>A

Surrounding Variants

1 paper

NM_015506.3

p.P280insFs

c.838dupC

2 papers

NM_015506.3

p.A278V

c.833C>T

1 paper

NM_015506.3

p.G281V

c.842G>T

1 paper

NM_015506.3

p.P282A

c.844C>G

1 paper

NM_015506.3

p.P277S

c.829C>T

1 paper

NM_015506.3

p.P277insFs

c.829dupC

1 paper

NM_015506.3

p.P276P

c.828A>T

1 paper

NM_015506.3

p.P276L

c.827C>T

5 papers

NM_015506.3

p.*283S

c.848G>C

2 papers

NM_015506.3

p.*283L

c.848G>T

1 paper

NM_015506.3

p.V274D

c.821T>A

1 paper

NM_015506.3

p.V274A

c.821T>C