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

7 papers

NM_015506.3

p.R267Q

c.800G>A

Surrounding Variants

2 papers

NM_015506.3

p.R267W

c.799C>T

1 paper

NM_015506.3

p.A266G

c.797C>G

1 paper

NM_015506.3

p.A266V

c.797C>T

1 paper

NM_015506.3

p.W269fs

c.805_806fs

2 papers

NM_015506.3

p.R265K

c.794G>A

1 paper

NM_015506.3

p.W269_L270delFs

c.807_810del4

1 paper

NM_015506.3

p.L270delFs

c.808_809delCT

5 papers

NM_015506.3

p.L270_S271insA

c.808_812ins3

1 paper

NM_015506.3

p.L270fs

c.808_809fs

3 papers

NM_015506.3

p.S264N

c.791G>A

1 paper

NM_015506.3

p.L270insFs

c.810dupC

4 papers

NM_015506.3

p.S271G

c.811A>G