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.I145insFs

c.434dupT

Surrounding Variants

1 paper

NM_015506.3

p.I145fs

c.433_434fs

1 paper

NM_015506.3

p.I145V

c.433A>G

4 papers

NM_015506.3

p.I145_S146delFs

c.435_436delAT

1 paper

NM_015506.3

p.S146insFs

c.436dupT

3 papers

NM_015506.3

p.S146_F154del9

c.436_461del27

1 paper

NM_015506.3

p.R144H

c.431G>A

1 paper

NM_015506.3

p.Q143_R144Splc

c.430-1G>A

1 paper

NM_015506.3

p.Q143_R144Splc

c.430-2A>C

4 papers

NM_015506.3

p.Q143_R144Splc

c.430-2A>G

1 paper

NM_015506.3

p.G147S

c.439G>A

33 papers

NM_015506.3

p.C149delFs

c.445_446delTG

18 papers

NM_015506.3

p.G147D

c.440G>A