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.V135L

c.403G>T

Surrounding Variants

1 paper

NM_015506.3

p.V135M

c.403G>A

1 paper

NM_015506.3

p.V135L

c.403G>C

1 paper

NM_015506.3

p.D134A

c.401A>C

1 paper

NM_015506.3

p.D134delFs

c.402delT

1 paper

NM_015506.3

p.D134fs

c.400_401fs

1 paper

NM_015506.3

p.D134delFs

c.401_402delAT

1 paper

NM_015506.3

p.E136V

c.407A>T

1 paper

NM_015506.3

p.E136E

c.408G>A

2 papers

NM_015506.3

p.Q133fs

c.397_398fs

1 paper

NM_015506.3

p.Q133*

c.397C>T

13 papers

NM_015506.3

p.Q133delFs

c.398_399delAA

6 papers

NM_015506.3

p.Q133fs

c.397_398fs