Varaico: Literature-Extracted Genetic Variants

Gene:KMO
Variant:p.T220S

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.T220S
c.658A>T
Surrounding Variants
1 paper
NM_003679.5
p.N219S
c.656A>G
1 paper
NM_003679.5
p.I215N
c.644T>A
1 paper
NM_003679.5
p.L226F
c.676C>T
1 paper
NM_003679.5
p.P227S
c.679C>T
1 paper
NM_003679.5
p.Y206H
c.616T>C
2 papers
NM_003679.5
p.T234I
c.701C>T
1 paper
NM_003679.5
p.T236S
c.707C>G
1 paper
NM_003679.5
p.T236T
c.708T>A
1 paper
NM_003679.5
p.P240L
c.719C>T
1 paper
NM_003679.5
p.T249A
c.745A>G
1 paper
NM_003679.5
p.N251S
c.752A>G
1 paper
NM_003679.5
p.Q258K
c.772C>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."