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.G155_F158del4

c.463_473del12

Surrounding Variants

2 papers

NM_015506.3

p.R153Q

c.458G>A

21 papers

NM_015506.3

p.R153*

c.457C>T

1 paper

NM_015506.3

p.F154C

c.461T>G

1 paper

NM_015506.3

p.R153_G156delFs

c.458_468del11

1 paper

NM_015506.3

p.G155delFs

c.463delG

1 paper

NM_015506.3

p.G155_G156del1

c.465_467delGGG

4 papers

NM_015506.3

p.G155R

c.463G>A

7 papers

NM_015506.3

p.G155R

c.463G>C

1 paper

NM_015506.3

p.G155fs

c.463_464fs

2 papers

NM_015506.3

p.P152S

c.454C>T

9 papers

NM_015506.3

p.G155E

c.464G>A

12 papers

NM_015506.3

p.H151R

c.452A>G