Varaico: Literature-Extracted Genetic Variants

Gene:GLO1
Variant:p.C19*

GLO1

73 papers

RefSeq Summary

The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is lo...

Pfam Domains

Glyoxalaseaa 31–174UCSCGlyoxalase/Bleomycin resistance protein/Dioxygenase superfamily

Gene Aliases

HGNC Name

glyoxalase I

HGNC Alias Symbol

GLOD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006708.3
p.C19*
c.57C>A
Surrounding Variants
1 paper
NM_006708.3
p.C19S
c.56G>C
1 paper
NM_006708.3
p.C19S
c.55T>A
1 paper
NM_006708.3
p.A16A
c.48C>A
2 papers
NM_006708.3
p.T12T
c.36G>T
1 paper
NM_006708.3
p.K28T
c.83A>C
1 paper
NM_006708.3
p.S8Y
c.23C>A
1 paper
NM_006708.3
p.P7P
c.21G>A
1 paper
NM_006708.3
p.P4Q
c.11C>A
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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."