Varaico: Literature-Extracted Genetic Variants

Gene:KMO
Variant:p.G20S

KMO

63 papers

RefSeq Summary

This gene encodes a mitochondrion outer membrane protein that catalyzes the hydroxylation of L-tryptophan metabolite, L-kynurenine, to form L-3-hydroxykynurenine. Studies in yeast identified this gene...

Pfam Domains

FAD_binding_3aa 8–331UCSCFAD binding domain

Gene Aliases

HGNC Name

kynurenine 3-monooxygenase

HGNC Previous Name

kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003679.5
p.G20S
c.58G>A
Surrounding Variants
1 paper
NM_003679.5
p.G20G
c.60C>A
1 paper
NM_003679.5
p.S21L
c.62C>T
1 paper
NM_003679.5
p.A24T
c.70G>A
1 paper
NM_003679.5
p.A24V
c.71C>T
1 paper
NM_003679.5
p.L27F
c.79C>T
1 paper
NM_003679.5
p.V36A
c.107T>C
1 paper
NM_003679.5
p.A39G
c.116C>G
1 paper
NM_003679.5
p.E41Q
c.121G>C
1 paper
NM_003679.5
p.D42G
c.125A>G
1 paper
NM_003679.5
p.D42G
c.125A>G
1 paper
NM_003679.5
p.T47S
c.139A>T
1 paper
NM_003679.5
p.F48S
c.143T>C
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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."