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.Q229*

c.685C>T

Surrounding Variants

7 papers

NM_015506.3

p.A228V

c.683C>T

1 paper

NM_015506.3

p.R230*

c.688C>T

5 papers

NM_015506.3

p.R230Q

c.689G>A

1 paper

NM_015506.3

p.A228delFs

c.682delG

1 paper

NM_015506.3

p.P227L

c.680C>T

1 paper

NM_015506.3

p.L231M

c.691T>A

4 papers

NM_015506.3

p.P226L

c.677C>T

1 paper

NM_015506.3

p.A232T

c.694G>A

1 paper

NM_015506.3

p.A232V

c.695C>T

1 paper

NM_015506.3

p.L233insFs

c.698_699insAA

23 papers

NM_015506.3

p.Y222*

c.666C>A

14 papers

NM_015506.3

p.Y222*

c.666C>G