Varaico: Literature-Extracted Genetic Variants

Gene:MCEE
Variant:p.A52A

MCEE

83 papers

RefSeq Summary

The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutation...

Pfam Domains

Glyoxalase_4aa 49–160UCSCGlyoxalase/Bleomycin resistance protein/Dioxygenase superfamily

Gene Aliases

HGNC Name

methylmalonyl-CoA epimerase

HGNC Alias Symbols

GLOD2; MCE; MMCE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032601.4
p.A52A
c.156C>A
Surrounding Variants
4 papers
NM_032601.4
p.I53R
c.158T>G
1 paper
NM_032601.4
p.A54insFs
c.160_161insT
1 paper
NM_032601.4
p.P56S
c.166C>T
16 papers
NM_032601.4
p.R47*
c.139C>T
1 paper
NM_032601.4
p.K60E
c.178A>G
10 papers
NM_032601.4
p.K60Q
c.178A>C
1 paper
NM_032601.4
p.A62V
c.185C>T
8 papers
NM_032601.4
p.A76V
c.227C>T
1 paper
NM_032601.4
p.S17S
c.51C>G
1 paper
NM_032601.4
p.L91M
c.271C>A
1 paper
NM_032601.4
p.L91L
c.273G>A
1 paper
NM_032601.4
p.G92E
c.275G>A
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