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.P211T

c.631C>A

Surrounding Variants

1 paper

NM_015506.3

p.P211S

c.631C>T

2 papers

NM_015506.3

p.Q212delFs

c.634delC

8 papers

NM_015506.3

p.T210fs

c.628_629fs

1 paper

NM_015506.3

p.Q212Q

c.636G>A

1 paper

NM_015506.3

p.V209E

c.626T>A

2 papers

NM_015506.3

p.V209M

c.625G>A

1 paper

NM_015506.3

p.V209fs

c.625_626fs

14 papers

NM_015506.3

p.V209insFs

c.625_626insT

2 papers

NM_015506.3

p.E213*

c.637G>T

3 papers

NM_015506.3

p.V209fs

c.625_626fs

6 papers

NM_015506.3

p.V209delFs

c.626_627delTG

2 papers

NM_015506.3

p.R214H

c.641G>A