Varaico: Literature-Extracted Genetic Variants

Gene:MCEE
Variant:p.E148Fs

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.E148Fs
c.444delinsTCCGCAGTCTAAGTGAAGAGFs
Surrounding Variants
2 papers
NM_032601.4
p.L145L
c.433C>T
7 papers
NM_032601.4
p.R143H
c.428G>A
11 papers
NM_032601.4
p.R143C
c.427C>T
1 paper
NM_032601.4
p.I142I
c.426C>A
1 paper
NM_032601.4
p.K156T
c.467A>C
3 papers
NM_032601.4
p.K140fs
c.418_419fs
1 paper
NM_032601.4
p.K138insFs
c.412_413insA
5 papers
NM_032601.4
p.K140delFs
c.419delT
1 paper
NM_032601.4
p.K140fs
c.418_419fs
1 paper
NM_032601.4
p.K138fs
c.412_413fs
1 paper
NM_032601.4
p.F160_L161insT
c.478_482ins3
1 paper
NM_032601.4
p.L161P
c.482T>C
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