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.S54C

c.160A>T

Surrounding Variants

1 paper

NM_015506.3

p.S54R

c.160A>C

1 paper

NM_015506.3

p.S54N

c.161G>A

1 paper

NM_015506.3

p.S54insFs

c.162dupC

1 paper

NM_015506.3

p.S54_T55delFs

c.162_163delCA

1 paper

NM_015506.3

p.S54R

c.162C>A

1 paper

NM_015506.3

p.S54R

c.162C>G

4 papers

NM_015506.3

p.L53P

c.158T>C

1 paper

NM_015506.3

p.L53R

c.158T>G

1 paper

NM_015506.3

p.T55_A62ins2

c.164_184dup21

1 paper

NM_015506.3

p.T55_P56ins6

c.163_167ins18

2 papers

NM_015506.3

p.T55M

c.164C>T

1 paper

NM_015506.3

p.V52_L53delFs

c.155_158del4