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

3 papers

NM_015506.3

p.A208_T210del3

c.622_629del9

Surrounding Variants

6 papers

NM_015506.3

p.V209delFs

c.626_627delTG

14 papers

NM_015506.3

p.R206Q

c.617G>A

2 papers

NM_015506.3

p.V209M

c.625G>A

3 papers

NM_015506.3

p.R206P

c.617G>C

1 paper

NM_015506.3

p.V209fs

c.625_626fs

14 papers

NM_015506.3

p.V209insFs

c.625_626insT

3 papers

NM_015506.3

p.V209fs

c.625_626fs

2 papers

NM_015506.3

p.D207insFs

c.619dupG

18 papers

NM_015506.3

p.R206W

c.616C>T

2 papers

NM_015506.3

p.R206fs

c.616_617fs

1 paper

NM_015506.3

p.V209E

c.626T>A

24 papers

NM_015506.3

p.Y205*

c.615C>A