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

2 papers

NM_015506.3

p.R214H

c.641G>A

Surrounding Variants

2 papers

NM_015506.3

p.Y215H

c.643T>C

1 paper

NM_015506.3

p.S216_E217del2

c.646_650del6

2 papers

NM_015506.3

p.E213*

c.637G>T

1 paper

NM_015506.3

p.Q212Q

c.636G>A

1 paper

NM_015506.3

p.S216_E217del1

c.647_649delCAG

1 paper

NM_015506.3

p.S216insFs

c.648dupA

2 papers

NM_015506.3

p.S216_E217del1

c.648_650delAGA

1 paper

NM_015506.3

p.E217delFs

c.649delG

1 paper

NM_015506.3

p.E217K

c.649G>A

2 papers

NM_015506.3

p.E217*

c.649G>T

1 paper

NM_015506.3

p.E217G

c.650A>G

1 paper

NM_015506.3

p.E217V

c.650A>T