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

6 papers

NM_015506.3

p.Q133fs

c.397_398fs

Surrounding Variants

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

1 paper

NM_015506.3

p.R132Q

c.395G>A

138 papers

NM_015506.3

p.R132*

c.394C>T

1 paper

NM_015506.3

p.D134fs

c.400_401fs

1 paper

NM_015506.3

p.D134delFs

c.401_402delAT

1 paper

NM_015506.3

p.D134A

c.401A>C

1 paper

NM_015506.3

p.D134delFs

c.402delT

4 papers

NM_015506.3

p.R132_Q133del1

c.395_397delGAC

2 papers

NM_015506.3

p.Q131*

c.391C>T

1 paper

NM_015506.3

p.V135M

c.403G>A