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.Y129delFs

c.387delC

Surrounding Variants

9 papers

NM_015506.3

p.Y130H

c.388T>C

14 papers

NM_015506.3

p.Y130C

c.389A>G

1 paper

NM_015506.3

p.Y130F

c.389A>T

5 papers

NM_015506.3

p.Q131_R132del1

c.392_394delAAC

2 papers

NM_015506.3

p.Q131*

c.391C>T

5 papers

NM_015506.3

p.Y130del1

c.388_390delTAC

4 papers

NM_015506.3

p.R132_Q133del1

c.395_397delGAC

138 papers

NM_015506.3

p.R132*

c.394C>T

1 paper

NM_015506.3

p.R132Q

c.395G>A

2 papers

NM_015506.3

p.Q133fs

c.397_398fs

1 paper

NM_015506.3

p.Q133*

c.397C>T

13 papers

NM_015506.3

p.Q133delFs

c.398_399delAA