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.R73_D77del5

c.217_230del15

Surrounding Variants

1 paper

NM_015506.3

p.L72_R73delFs

c.216_217delCC

1 paper

NM_015506.3

p.R73R

c.217C>A

54 papers

NM_015506.3

p.R73*

c.217C>T

1 paper

NM_015506.3

p.R73L

c.218G>T

2 papers

NM_015506.3

p.M74delFs

c.220delA

2 papers

NM_015506.3

p.R73_M74delFs

c.219_220delAA

1 paper

NM_015506.3

p.M74fs

c.220_221fs

1 paper

NM_015506.3

p.C70Y

c.209G>A

1 paper

NM_015506.3

p.M74I

c.222G>A

1 paper

NM_015506.3

p.M74I

c.222G>C

1 paper

NM_015506.3

p.M74I

c.222G>T

6 papers

NM_015506.3

p.T76_D77delFs

c.228_231del4