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

14 papers

NM_015506.3

p.Y222*

c.666C>G

Surrounding Variants

23 papers

NM_015506.3

p.Y222*

c.666C>A

1 paper

NM_015506.3

p.K220Q

c.658A>C

1 paper

NM_015506.3

p.K220fs

c.658_659fs

2 papers

NM_015506.3

p.K220delFs

c.658_659delAA

1 paper

NM_015506.3

p.K220ins0

c.658_660dupAAG

4 papers

NM_015506.3

p.P226L

c.677C>T

106 papers

NM_015506.3

p.K220del1

c.658_659delAAG

1 paper

NM_015506.3

p.P227L

c.680C>T

2 papers

NM_015506.3

p.Q219_K220del2

c.655_659del6

1 paper

NM_015506.3

p.E218del1

c.652_653delGAG

1 paper

NM_015506.3

p.A228delFs

c.682delG

1 paper

NM_015506.3

p.E217G

c.650A>G