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.G261delFs

c.782delG

Surrounding Variants

1 paper

NM_015506.3

p.G261fs

c.781_782fs

8 papers

NM_015506.3

p.G261E

c.782G>A

1 paper

NM_015506.3

p.S264_R273del0

c.792_818del27

3 papers

NM_015506.3

p.S264N

c.791G>A

2 papers

NM_015506.3

p.R265K

c.794G>A

1 paper

NM_015506.3

p.P257del1

c.769_770delCCC

1 paper

NM_015506.3

p.A266G

c.797C>G

1 paper

NM_015506.3

p.A266V

c.797C>T

2 papers

NM_015506.3

p.A256_P257del0

c.766_771del6

2 papers

NM_015506.3

p.T254I

c.761C>T

2 papers

NM_015506.3

p.R267W

c.799C>T

7 papers

NM_015506.3

p.R267Q

c.800G>A