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.G162R

c.484G>A

Surrounding Variants

2 papers

NM_015506.3

p.G162R

c.484G>C

10 papers

NM_015506.3

p.G162W

c.484G>T

1 paper

NM_015506.3

p.G162delFs

c.486delG

3 papers

NM_015506.3

p.G162_V163del1

c.485_487delGGG

153 papers

NM_015506.3

p.R161Q

c.482G>A

2 papers

NM_015506.3

p.R161L

c.482G>T

1 paper

NM_015506.3

p.G162_V163del2

c.484_488del6

1 paper

NM_015506.3

p.V163del1

c.487_489delGTA

13 papers

NM_015506.3

p.R161G

c.481C>G

39 papers

NM_015506.3

p.R161*

c.481C>T

1 paper

NM_015506.3

p.V164del1

c.490_491delGTG

1 paper

NM_015506.3

p.V164M

c.490G>A