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

21 papers

NM_015506.3

p.Y105*

c.315C>A

Surrounding Variants

35 papers

NM_015506.3

p.Y105*

c.315C>G

1 paper

NM_015506.3

p.Y105Y

c.315C>T

3 papers

NM_015506.3

p.E106K

c.316G>A

1 paper

NM_015506.3

p.V107M

c.319G>A

1 paper

NM_015506.3

p.D104H

c.310G>C

13 papers

NM_015506.3

p.V107V

c.321G>A

1 paper

NM_015506.3

p.A103A

c.309T>C

8 papers

NM_015506.3

p.H108Y

c.322C>T

1 paper

NM_015506.3

p.A103V

c.308C>T

1 paper

NM_015506.3

p.A103T

c.307G>A

2 papers

NM_015506.3

p.P109fs

c.325_326fs

1 paper

NM_015506.3

p.P109S

c.325C>T