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.V28fs

c.82_83fs

Surrounding Variants

1 paper

NM_015506.3

p.V28M

c.82G>A

1 paper

NM_015506.3

p.V28insFs

c.82_83insC

5 papers

NM_015506.3

p.Q27_V28Splc

c.82-1G>A

3 papers

NM_015506.3

p.Q27_V28Splc

c.82-2A>G

1 paper

NM_015506.3

p.A29P

c.85G>C

3 papers

NM_015506.3

p.W30*

c.89G>A

4 papers

NM_015506.3

p.W30*

c.90G>A

2 papers

NM_015506.3

p.E33delFs

c.99delA

1 paper

NM_015506.3

p.E33fs

c.97_98fs

1 paper

NM_015506.3

p.L34F

c.100C>T

1 paper

NM_015506.3

p.L34P

c.101T>C

1 paper

NM_015506.3

p.L35W

c.104T>G