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.V274D

c.821T>A

Surrounding Variants

1 paper

NM_015506.3

p.V274A

c.821T>C

1 paper

NM_015506.3

p.P276L

c.827C>T

1 paper

NM_015506.3

p.P277insFs

c.829dupC

1 paper

NM_015506.3

p.P276P

c.828A>T

1 paper

NM_015506.3

p.P277S

c.829C>T

4 papers

NM_015506.3

p.S271G

c.811A>G

2 papers

NM_015506.3

p.A278V

c.833C>T

1 paper

NM_015506.3

p.L270insFs

c.810dupC

5 papers

NM_015506.3

p.L270_S271insA

c.808_812ins3

1 paper

NM_015506.3

p.L270fs

c.808_809fs

1 paper

NM_015506.3

p.L270delFs

c.808_809delCT

1 paper

NM_015506.3

p.P280insFs

c.838dupC