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.Q118H

c.354G>T

Surrounding Variants

3 papers

NM_015506.3

p.Q118H

c.354G>C

1 paper

NM_015506.3

p.A120_A121delFs

c.360_363del4

1 paper

NM_015506.3

p.A117T

c.349G>A

2 papers

NM_015506.3

p.A117P

c.349G>C

3 papers

NM_015506.3

p.A117S

c.349G>T

6 papers

NM_015506.3

p.Q118delFs

c.352delC

2 papers

NM_015506.3

p.H122insFs

c.364dupC

1 paper

NM_015506.3

p.A121fs

c.361_362fs

1 paper

NM_015506.3

p.A121delFs

c.362delC

27 papers

NM_015506.3

p.L116P

c.347T>C

NM_001330540.2

p.L59P

c.176T>C

1 paper

NM_015506.3

p.L116M

c.346C>A

1 paper

NM_015506.3

p.L116V

c.346C>G