Varaico: Literature-Extracted Genetic Variants

Gene:KMO
Variant:p.N482S

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.N482S
c.1445A>G
Surrounding Variants
1 paper
NM_003679.5
p.I484L
c.1450A>C
1 paper
NM_003679.5
p.A471insFs
c.1412_1413insAA
1 paper
NM_003679.5
p.A471fs
c.1411_1412fs
1 paper
NM_003679.5
p.P470L
c.1409C>T
1 paper
NM_003679.5
p.N465H
c.1393A>C
1 paper
NM_003679.5
p.A461S
c.1381G>T
1 paper
NM_003679.5
p.R454K
c.1361G>A
7 papers
NM_003679.5
p.R452C
c.1354C>T
1 paper
NM_003679.5
p.R448*
c.1342C>T
1 paper
NM_003679.5
p.T438I
c.1313C>T
1 paper
NM_003679.5
p.K420fs
c.1258_1259fs
1 paper
NM_003679.5
p.Q418K
c.1252C>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."