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.E13fs

c.37_38fs

Surrounding Variants

1 paper

NM_015506.3

p.E13_L16delFs

c.39_48del10

1 paper

NM_015506.3

p.D14_Y24del11

c.40_71del33

1 paper

NM_015506.3

p.I12insFs

c.35dupT

1 paper

NM_015506.3

p.K11R

c.32A>G

1 paper

NM_015506.3

p.L16delFs

c.46delC

1 paper

NM_015506.3

p.L16insFs

c.47_48insTT

1 paper

NM_015506.3

p.L16V

c.46C>G

1 paper

NM_015506.3

p.Q10*

c.28C>T

2 papers

NM_015506.3

p.K9K

c.27G>A

1 paper

NM_015506.3

p.C17del1

c.49_51delTGT

1 paper

NM_015506.3

p.L8Q

c.23T>A

1 paper

NM_015506.3

p.F19_G20insFs

c.57_58insT