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.G195D

c.584G>A

Surrounding Variants

1 paper

NM_015506.3

p.E194Fs

c.581_582delinsTFs

1 paper

NM_015506.3

p.E194K

c.580G>A

1 paper

NM_015506.3

p.N197D

c.589A>G

1 paper

NM_015506.3

p.N197S

c.590A>G

3 papers

NM_015506.3

p.L193P

c.578T>C

1 paper

NM_015506.3

p.L193fs

c.577_578fs

1 paper

NM_015506.3

p.F198_W200delFs

c.594_598del5

1 paper

NM_015506.3

p.L192insFs

c.576dupA

1 paper

NM_015506.3

p.L192fs

c.574_575fs

1 paper

NM_015506.3

p.A191D

c.572C>A

1 paper

NM_015506.3

p.W200insFs

c.598dupT

1 paper

NM_015506.3

p.L192delFs

c.574delC