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.P46S

c.136C>T

Surrounding Variants

1 paper

NM_015506.3

p.G45G

c.135A>T

1 paper

NM_015506.3

p.G45_P46Fs

c.134_136delinsATFs

1 paper

NM_015506.3

p.T47S

c.140C>G

4 papers

NM_015506.3

p.A49_V52del0

c.146_154del9

1 paper

NM_015506.3

p.P44delFs

c.132delA

1 paper

NM_015506.3

p.L48M

c.142C>A

1 paper

NM_015506.3

p.L48P

c.143T>C

1 paper

NM_015506.3

p.L43fs

c.127_128fs

1 paper

NM_015506.3

p.A49P

c.145G>C

1 paper

NM_015506.3

p.L43_P44insFs

c.127_130dup4

2 papers

NM_015506.3

p.P42L

c.125C>T

1 paper

NM_015506.3

p.P42fs

c.124_125fs