Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCEE

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

16 papers

chr2:71124445 G>A

NM_032601.4

p.R47*

c.139C>T

Exome: 0.0% (AC=673, hom=0)Genome: 0.0% (AC=44, hom=0)145 overlapping SVs

11 papers

chr2:71110074 G>A

NM_032601.4

p.R143C

c.427C>T

Glyoxalase_4

Exome: 0.5% (AC=7980, hom=45)Genome: 0.5% (AC=810, hom=10)146 overlapping SVs

10 papers

chr2:71124406 T>G

NM_032601.4

p.K60Q

c.178A>C

Glyoxalase_4

Exome: 0.1% (AC=1249, hom=23)Genome: 0.1% (AC=77, hom=0)145 overlapping SVs

9 papers

chr2:71124273 C>A

NM_032601.4

p.R104L

c.311G>T

Glyoxalase_4

Exome: 17.2% (AC=252075, hom=22488)Genome: 18.2% (AC=27690, hom=2680)145 overlapping SVs

8 papers

chr2:71124357 G>A

NM_032601.4

p.A76V

c.227C>T

Glyoxalase_4

Exome: 34.4% (AC=502377, hom=90899)Genome: 26.8% (AC=40754, hom=6834)145 overlapping SVs

7 papers

chr2:71110073 C>T

NM_032601.4

p.R143H

c.428G>A

Glyoxalase_4

Exome: 0.7% (AC=10050, hom=283)Genome: 2.4% (AC=3583, hom=112)146 overlapping SVs

5 papers

chr2:71110766 T>C

NM_032601.4

p.E126_V127Splc

c.379-644A>G

exact variant not in gnomAD146 overlapping SVs

5 papers

chr2:71110081 CT>C

NM_032601.4

p.K140delFs

c.419delT

Glyoxalase_4

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=8, hom=1)146 overlapping SVs

4 papers

chr2:71124426 A>C

NM_032601.4

p.I53R

c.158T>G

Glyoxalase_4

Exome: 0.0% (AC=1, hom=0)Genome: n/a145 overlapping SVs

3 papers

chr2:71110081 C>CN

NM_032601.4

p.K140fs

c.418_419fs

Glyoxalase_4

exact variant not in gnomAD146 overlapping SVs

2 papers

chr2:71130219 T>C

NM_032601.4

p.M1V

c.1A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a145 overlapping SVs

2 papers

chr2:71124288 A>G

NM_032601.4

p.L99P

c.296T>C

Glyoxalase_4

exact variant not in gnomAD145 overlapping SVs

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."