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.P78Q

c.233C>A

Surrounding Variants

2 papers

NM_015506.3

p.P78P

c.234A>G

1 paper

NM_015506.3

p.V79delFs

c.235delG

3 papers

NM_015506.3

p.D77fs

c.229_230fs

1 paper

NM_015506.3

p.Q81*

c.241C>T

2 papers

NM_015506.3

p.L75L

c.223C>T

1 paper

NM_015506.3

p.M74I

c.222G>A

1 paper

NM_015506.3

p.M74I

c.222G>C

1 paper

NM_015506.3

p.M74I

c.222G>T

6 papers

NM_015506.3

p.T76_D77delFs

c.228_231del4

1 paper

NM_015506.3

p.C82_V83insC

c.244_248ins3

1 paper

NM_015506.3

p.M74fs

c.220_221fs

1 paper

NM_015506.3

p.V83M

c.247G>A