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

3 papers

NM_015506.3

p.W157S

c.470G>C

Surrounding Variants

3 papers

NM_015506.3

p.W157*

c.470G>A

2 papers

NM_015506.3

p.W157*

c.471G>A

2 papers

NM_015506.3

p.W157C

c.471G>C

1 paper

NM_015506.3

p.W157C

c.471G>T

1 paper

NM_015506.3

p.W157fs

c.469_470fs

1 paper

NM_015506.3

p.W157del1

c.469_470delTGG

8 papers

NM_015506.3

p.F158L

c.472T>C

10 papers

NM_015506.3

p.G156D

c.467G>A

1 paper

NM_015506.3

p.G156A

c.467G>C

8 papers

NM_015506.3

p.G156_W157delFs

c.468_469delCT

1 paper

NM_015506.3

p.G156_W157del1

c.468_470delCTG

6 papers

NM_015506.3

p.F158L

c.474T>A