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.H180D

c.538C>G

Surrounding Variants

3 papers

NM_015506.3

p.P179insFs

c.536_537insAT

1 paper

NM_015506.3

p.D181Y

c.541G>T

6 papers

NM_015506.3

p.V183delFs

c.547_548delGT

5 papers

NM_015506.3

p.C182R

c.544T>C

1 paper

NM_015506.3

p.V183I

c.547G>A

1 paper

NM_015506.3

p.V183fs

c.547_548fs

1 paper

NM_015506.3

p.P184delFs

c.551delC

1 paper

NM_015506.3

p.P176delFs

c.528delC

2 papers

NM_015506.3

p.P176_A191del16

c.526_572del48

1 paper

NM_015506.3

p.P175Q

c.524C>A

1 paper

NM_015506.3

p.T185I

c.554C>T

1 paper

NM_015506.3

p.T185T

c.555A>T