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.I190ins0

c.568_570dupATC

Surrounding Variants

1 paper

NM_015506.3

p.R189R

c.567T>G

9 papers

NM_015506.3

p.I190fs

c.568_569fs

2 papers

NM_015506.3

p.I190insFs

c.568_569insT

22 papers

NM_015506.3

p.I190fs

c.568_569fs

9 papers

NM_015506.3

p.R189H

c.566G>A

67 papers

NM_015506.3

p.R189insFs

c.567dupT

1 paper

NM_015506.3

p.R189delFs

c.567delT

19 papers

NM_015506.3

p.R189S

c.565C>A

2 papers

NM_015506.3

p.R189fs

c.565_566fs

1 paper

NM_015506.3

p.R189G

c.565C>G

13 papers

NM_015506.3

p.R189C

c.565C>T

NM_001330540.2

p.R132C

c.394C>T

1 paper

NM_015506.3

p.I190S

c.569T>G