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

18 papers

NM_015506.3

p.G147D

c.440G>A

Surrounding Variants

22 papers

NM_015506.3

p.G147A

c.440G>C

1 paper

NM_015506.3

p.G147S

c.439G>A

33 papers

NM_015506.3

p.C149delFs

c.445_446delTG

2 papers

NM_015506.3

p.G147G

c.441T>A

3 papers

NM_015506.3

p.V148Fs

c.442_444delinsAFs

1 paper

NM_015506.3

p.V148fs

c.442_443fs

1 paper

NM_015506.3

p.S146insFs

c.436dupT

3 papers

NM_015506.3

p.S146_F154del9

c.436_461del27

1 paper

NM_015506.3

p.C149S

c.445T>A

2 papers

NM_015506.3

p.C149R

c.445T>C

12 papers

NM_015506.3

p.C149insFs

c.445_446insA

8 papers

NM_015506.3

p.C149fs

c.445_446fs