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.E96K

c.286G>A

Surrounding Variants

1 paper

NM_015506.3

p.E96fs

c.286_287fs

1 paper

NM_015506.3

p.E96_L97Fs

c.286_290delinsTFs

2 papers

NM_015506.3

p.P95insFs

c.285dupA

1 paper

NM_015506.3

p.L97P

c.290T>C

1 paper

NM_015506.3

p.Q98E

c.292C>G

2 papers

NM_015506.3

p.Q98*

c.292C>T

4 papers

NM_015506.3

p.S93N

c.278G>A

1 paper

NM_015506.3

p.S93fs

c.277_278fs

1 paper

NM_015506.3

p.E92_S93Splc

c.277-1G>T

1 paper

NM_015506.3

p.I99T

c.296T>C

1 paper

NM_015506.3

p.E92_S93Splc

c.277-2A>G

1 paper

NM_015506.3

p.E100*

c.298G>T