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

1–12 of 503 variants

194 papers

NM_015506.3

p.W203*

c.609G>A

187 papers

NM_015506.3

p.R91insFs

c.271dupA

153 papers

NM_015506.3

p.R161Q

c.482G>A

138 papers

NM_015506.3

p.R132*

c.394C>T

116 papers

NM_015506.3

p.W203*

c.608G>A

106 papers

NM_015506.3

p.K220del1

c.658_659delAAG

104 papers

NM_015506.3

p.Q27R

c.80A>G

86 papers

NM_015506.3

p.R111*

c.331C>T

67 papers

NM_015506.3

p.R189insFs

c.567dupT

54 papers

NM_015506.3

p.R73*

c.217C>T

41 papers

NM_015506.3

p.R91fs

c.271_272fs

39 papers

NM_015506.3

p.R161*

c.481C>T