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.N110fs

c.328_329fs

Surrounding Variants

3 papers

NM_015506.3

p.N110fs

c.328_329fs

1 paper

NM_015506.3

p.N110S

c.329A>G

2 papers

NM_015506.3

p.P109fs

c.325_326fs

86 papers

NM_015506.3

p.R111*

c.331C>T

1 paper

NM_015506.3

p.P109S

c.325C>T

13 papers

NM_015506.3

p.N110_R111delFs

c.328_331del4

3 papers

NM_015506.3

p.R111Q

c.332G>A

8 papers

NM_015506.3

p.H108Y

c.322C>T

1 paper

NM_015506.3

p.R112C

c.334C>T

13 papers

NM_015506.3

p.V107V

c.321G>A

1 paper

NM_015506.3

p.V107M

c.319G>A

3 papers

NM_015506.3

p.E106K

c.316G>A