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.P42fs

c.124_125fs

Surrounding Variants

2 papers

NM_015506.3

p.P42L

c.125C>T

1 paper

NM_015506.3

p.L43_P44insFs

c.127_130dup4

1 paper

NM_015506.3

p.L41insFs

c.122dupT

1 paper

NM_015506.3

p.L43fs

c.127_128fs

2 papers

NM_015506.3

p.H40Y

c.118C>T

1 paper

NM_015506.3

p.P42_T47delFs

c.126_141del16

1 paper

NM_015506.3

p.P44delFs

c.132delA

1 paper

NM_015506.3

p.F39insFs

c.117dupC

1 paper

NM_015506.3

p.F39_L48del10

c.115_143del30

1 paper

NM_015506.3

p.G45_P46Fs

c.134_136delinsATFs

1 paper

NM_015506.3

p.G45G

c.135A>T

1 paper

NM_015506.3

p.P46S

c.136C>T