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

8 papers

NM_015506.3

p.C149*

c.447C>A

Surrounding Variants

1 paper

NM_015506.3

p.I150delins

c.448_449delinsCC

1 paper

NM_015506.3

p.C149S

c.446G>C

1 paper

NM_015506.3

p.C149insFs

c.446_447insA

1 paper

NM_015506.3

p.C149S

c.445T>A

1 paper

NM_015506.3

p.I150K

c.449T>A

2 papers

NM_015506.3

p.C149R

c.445T>C

3 papers

NM_015506.3

p.I150R

c.449T>G

12 papers

NM_015506.3

p.C149insFs

c.445_446insA

8 papers

NM_015506.3

p.C149fs

c.445_446fs

9 papers

NM_015506.3

p.C149fs

c.445_446fs

12 papers

NM_015506.3

p.H151R

c.452A>G

3 papers

NM_015506.3

p.P152_R153del1

c.455_457delCCC