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.R61L

c.182G>T

Surrounding Variants

1 paper

NM_015506.3

p.R61Q

c.182G>A

2 papers

NM_015506.3

p.R61P

c.182G>C

7 papers

NM_015506.3

p.R61W

c.181C>T

2 papers

NM_015506.3

p.D60H

c.178G>C

1 paper

NM_015506.3

p.F59S

c.176T>C

2 papers

NM_015506.3

p.F59_K64delFs

c.176_191del16

1 paper

NM_001330540.2

p.M1V

c.1A>G

1 paper

NM_015506.3

p.P65T

c.193C>A

1 paper

NM_015506.3

p.A57_M58insT

c.169_173ins3

1 paper

NM_015506.3

p.P56L

c.167C>T

2 papers

NM_015506.3

p.T55M

c.164C>T

1 paper

NM_015506.3

p.T55_A62ins2

c.164_184dup21