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

15 papers

NM_015506.3

p.E92D

c.276G>T

Surrounding Variants

6 papers

NM_015506.3

p.E92E

c.276G>A

10 papers

NM_015506.3

p.E92D

c.276G>C

5 papers

NM_015506.3

p.E92_S93Splc

c.276+1G>A

1 paper

NM_015506.3

p.E92Q

c.274G>C

2 papers

NM_015506.3

p.E92_S93Splc

c.276+2T>C

1 paper

NM_015506.3

p.E92_S93Splc

c.276+2T>G

1 paper

NM_015506.3

p.R91K

c.272G>A

12 papers

NM_015506.3

p.R91fs

c.271_272fs

1 paper

NM_015506.3

p.R91*

c.271A>T

41 papers

NM_015506.3

p.R91fs

c.271_272fs

1 paper

NM_015506.3

p.E92_S93Splc

c.276+5G>A

187 papers

NM_015506.3

p.R91insFs

c.271dupA