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.A121delFs

c.362delC

Surrounding Variants

2 papers

NM_015506.3

p.H122insFs

c.364dupC

1 paper

NM_015506.3

p.A121fs

c.361_362fs

3 papers

NM_015506.3

p.H122N

c.364C>A

1 paper

NM_015506.3

p.H122Y

c.364C>T

1 paper

NM_015506.3

p.H122fs

c.364_365fs

1 paper

NM_015506.3

p.A120_A121delFs

c.360_363del4

9 papers

NM_015506.3

p.H122R

c.365A>G

18 papers

NM_015506.3

p.H122L

c.365A>T

1 paper

NM_015506.3

p.H122Q

c.366T>A

1 paper

NM_015506.3

p.H122Q

c.366T>G

1 paper

NM_015506.3

p.V123insFs

c.367_368insG

3 papers

NM_015506.3

p.Q118H

c.354G>C