Varaico: Literature-Extracted Genetic Variants

Gene:MCEE
Variant:p.V13A

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.V13A
c.38T>C
Surrounding Variants
1 paper
NM_032601.4
p.G14Splc
c.40+1G>A
1 paper
NM_032601.4
p.V4V
c.12G>C
1 paper
NM_032601.4
p.A2V
c.5C>T
1 paper
NM_032601.4
p.M1insFs
c.2_3insT
1 paper
NM_032601.4
p.M1R
c.2T>G
2 papers
NM_032601.4
p.M1V
c.1A>G
1 paper
NM_032601.4
p.S17S
c.51C>G
16 papers
NM_032601.4
p.R47*
c.139C>T
1 paper
NM_032601.4
p.A52A
c.156C>A
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
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