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.S69_C70ins2

c.207_208ins6

Surrounding Variants

2 papers

NM_015506.3

p.S69G

c.205A>G

3 papers

NM_015506.3

p.C70del1

c.208_210delTGC

1 paper

NM_015506.3

p.C70Y

c.209G>A

1 paper

NM_015506.3

p.Q68insFs

c.202_203ins4

1 paper

NM_015506.3

p.Q68insFs

c.202_203ins5

1 paper

NM_015506.3

p.Q68ins2

c.202_203ins6

4 papers

NM_015506.3

p.Q68E

c.202C>G

1 paper

NM_015506.3

p.L72_R73delFs

c.216_217delCC

1 paper

NM_015506.3

p.R73_D77del5

c.217_230del15

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