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

4 papers

NM_015506.3

p.M1L

c.1A>T

Surrounding Variants

1 paper

NM_015506.3

p.M1insFs

c.2_3insT

3 papers

NM_015506.3

p.M1L

c.1A>C

27 papers

NM_015506.3

p.M1V

c.1A>G

2 papers

NM_015506.3

p.M1T

c.2T>C

1 paper

NM_015506.3

p.M1R

c.2T>G

1 paper

NM_015506.3

p.M1insFs

c.3dupG

1 paper

NM_015506.3

p.M1_E2del2

c.1_5del6

1 paper

NM_015506.3

p.M1_Q10Fs

c.3_29delinsCAFs

1 paper

NM_015506.3

p.M1delFs

c.1_2delAT

10 papers

NM_015506.3

p.M1I

c.3G>A

2 papers

NM_015506.3

p.M1I

c.3G>C

1 paper

NM_015506.3

p.M1_E2insFs

c.3_4insA