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.A187D

c.560C>A

Surrounding Variants

1 paper

NM_015506.3

p.A187_A191del0

c.561_572del12

1 paper

NM_015506.3

p.D188N

c.562G>A

1 paper

NM_015506.3

p.D188_L193ins2

c.563_577dup15

3 papers

NM_015506.3

p.R189delFs

c.565delC

1 paper

NM_015506.3

p.R189_L192del0

c.566_574del9

1 paper

NM_015506.3

p.R186*

c.556A>T

1 paper

NM_015506.3

p.T185T

c.555A>T

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.T185I

c.554C>T