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.V171delFs

c.511delG

Surrounding Variants

1 paper

NM_015506.3

p.E170K

c.508G>A

1 paper

NM_015506.3

p.E170Q

c.508G>C

1 paper

NM_015506.3

p.E170delFs

c.509delA

1 paper

NM_015506.3

p.V171fs

c.511_512fs

1 paper

NM_015506.3

p.I169T

c.506T>C

1 paper

NM_015506.3

p.I169fs

c.505_506fs

1 paper

NM_015506.3

p.I169delFs

c.505_506delAT

1 paper

NM_015506.3

p.P172R

c.515C>G

1 paper

NM_015506.3

p.I169_D173delFs

c.507_519del13

3 papers

NM_015506.3

p.G168R

c.502G>A

1 paper

NM_015506.3

p.G168R

c.502G>C

3 papers

NM_015506.3

p.P167delFs

c.500delC