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

116 papers

NM_015506.3

p.W203*

c.608G>A

Surrounding Variants

194 papers

NM_015506.3

p.W203*

c.609G>A

2 papers

NM_015506.3

p.D202_R214delins

c.606_641delinsCTT

1 paper

NM_015506.3

p.D202insFs

c.605_606ins46

1 paper

NM_015506.3

p.D202_D207delFs

c.605_621del17

3 papers

NM_015506.3

p.R206delFs

c.616delC

24 papers

NM_015506.3

p.Y205*

c.615C>A

1 paper

NM_015506.3

p.R201insFs

c.602dupG

22 papers

NM_015506.3

p.Y205*

c.615C>G

2 papers

NM_015506.3

p.D207insFs

c.619dupG

18 papers

NM_015506.3

p.R206W

c.616C>T

2 papers

NM_015506.3

p.R206fs

c.616_617fs

12 papers

NM_015506.3

p.W200*

c.600G>A