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.P248R

c.743C>G

Surrounding Variants

1 paper

NM_015506.3

p.D249delFs

c.746delA

1 paper

NM_015506.3

p.D249_L250del1

c.746_748delACC

1 paper

NM_015506.3

p.P246P

c.738C>G

1 paper

NM_015506.3

p.L250F

c.748C>T

1 paper

NM_001330540.2

p.P189insFs

c.566_567insT

1 paper

NM_015506.3

p.P251S

c.751C>T

1 paper

NM_015506.3

p.S245F

c.734C>T

1 paper

NM_015506.3

p.F252L

c.754T>C

1 paper

NM_015506.3

p.F252insFs

c.755_756insA

1 paper

NM_015506.3

p.P243_S244insFs

c.729_730insT

10 papers

NM_015506.3

p.P243_S244insFs

c.729_730insTT

1 paper

NM_015506.3

p.T254_N262del9

c.760_785del27