Varaico: Literature-Extracted Genetic Variants

Gene:GLO1
Variant:p.K140T

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
11 papers
NM_006708.3
p.K140T
c.419A>C
Surrounding Variants
1 paper
NM_006708.3
p.D134G
c.401A>G
1 paper
NM_006708.3
p.F149del1
c.445_446delAAA
1 paper
NM_006708.3
p.G126S
c.376G>A
1 paper
NM_006708.3
p.G126S
c.376G>A
2 papers
NM_006708.3
p.F125Y
c.374T>A
4 papers
NM_006708.3
p.G124G
c.372A>T
1 paper
NM_006708.3
p.P122fs
c.364_365fs
1 paper
NM_006708.3
p.P122delFs
c.365delG
1 paper
NM_006708.3
p.Y115F
c.344A>T
25 papers
NM_006708.3
p.E111A
c.332A>C
1 paper
NM_006708.3
p.N104delFs
c.311delT
1 paper
NM_006708.3
p.N104fs
c.310_311fs
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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."