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

2 papers

NM_015506.3

p.I101S

c.302T>G

Surrounding Variants

1 paper

NM_015506.3

p.E100*

c.298G>T

2 papers

NM_015506.3

p.E100delFs

c.299_300delAA

1 paper

NM_015506.3

p.A103T

c.307G>A

1 paper

NM_015506.3

p.A103V

c.308C>T

1 paper

NM_015506.3

p.I99T

c.296T>C

1 paper

NM_015506.3

p.A103A

c.309T>C

1 paper

NM_015506.3

p.D104H

c.310G>C

1 paper

NM_015506.3

p.Q98E

c.292C>G

2 papers

NM_015506.3

p.Q98*

c.292C>T

1 paper

NM_015506.3

p.L97P

c.290T>C

21 papers

NM_015506.3

p.Y105*

c.315C>A

35 papers

NM_015506.3

p.Y105*

c.315C>G