Varaico: Literature-Extracted Genetic Variants

Gene:KMO
Variant:p.Q418K

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.Q418K
c.1252C>A
Surrounding Variants
1 paper
NM_003679.5
p.Q418fs
c.1252_1253fs
1 paper
NM_003679.5
p.K420fs
c.1258_1259fs
1 paper
NM_003679.5
p.E410D
c.1230G>C
1 paper
NM_003679.5
p.E410D
c.1230G>T
1 paper
NM_003679.5
p.S404fs
c.1210_1211fs
1 paper
NM_003679.5
p.F403V
c.1207T>G
1 paper
NM_003679.5
p.S404delFs
c.1210delT
1 paper
NM_003679.5
p.P396S
c.1186C>T
1 paper
NM_003679.5
p.A388V
c.1163C>T
1 paper
NM_003679.5
p.L386R
c.1157T>G
1 paper
NM_003679.5
p.E366Q
c.1096G>C
1 paper
NM_003679.5
p.T438I
c.1313C>T
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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."