Varaico: Literature-Extracted Genetic Variants

Gene:MCEE
Variant:p.K164E

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.K164E
c.490A>G
Surrounding Variants
1 paper
NM_032601.4
p.C166S
c.496T>A
1 paper
NM_032601.4
p.C166S
c.497G>C
1 paper
NM_032601.4
p.L161P
c.482T>C
1 paper
NM_032601.4
p.F160_L161insT
c.478_482ins3
1 paper
NM_032601.4
p.K156T
c.467A>C
1 paper
NM_032601.4
p.E172G
c.515A>G
1 paper
NM_032601.4
p.E174K
c.520G>A
1 paper
NM_032601.4
p.*177S
c.530G>C
1 paper
NM_032601.4
p.E148Fs
c.444delinsTCCGCAGTCTAAGTGAAGAGFs
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
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