Varaico: Literature-Extracted Genetic Variants

Gene:MCEE
Variant:p.G92E

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.G92E
c.275G>A
Surrounding Variants
1 paper
NM_032601.4
p.L91L
c.273G>A
1 paper
NM_032601.4
p.L91M
c.271C>A
1 paper
NM_032601.4
p.M96V
c.286A>G
2 papers
NM_032601.4
p.L99P
c.296T>C
1 paper
NM_032601.4
p.L102*
c.305T>A
1 paper
NM_032601.4
p.G103R
c.307G>C
1 paper
NM_032601.4
p.G103R
c.307G>A
9 papers
NM_032601.4
p.R104L
c.311G>T
8 papers
NM_032601.4
p.A76V
c.227C>T
1 paper
NM_032601.4
p.N115_K116delFs
c.344_347del4
1 paper
NM_032601.4
p.H122Y
c.364C>T
1 paper
NM_032601.4
p.A62V
c.185C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."