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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KMO

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 99 variants

7 papers

chr1:241592046 C>T

NM_003679.5

p.R452C

c.1354C>T

Exome: 20.9% (AC=305051, hom=33370)Genome: 15.6% (AC=23783, hom=2374)41 overlapping SVs

2 papers

chr1:241532455 C>A

NM_003679.5

p.S4Y

c.11C>A

exact variant not in gnomAD42 overlapping SVs

2 papers

chr1:241566504 C>T

NM_003679.5

p.T234I

c.701C>T

FAD_binding_3

Exome: 0.0% (AC=195, hom=0)Genome: 0.0% (AC=50, hom=0)41 overlapping SVs

2 papers

chr1:241586730 G>A

NM_003679.5

p.D337N

c.1009G>A

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=2, hom=0)41 overlapping SVs

1 paper

chr1:241532446 T>C

NM_003679.5

p.M1T

c.2T>C

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)42 overlapping SVs

1 paper

chr1:241532479 C>T

NM_003679.5

p.A12V

c.35C>T

FAD_binding_3

Exome: 0.0% (AC=2, hom=0)Genome: n/a42 overlapping SVs

1 paper

chr1:241548832 G>A

NM_003679.5

p.G20S

c.58G>A

FAD_binding_3

exact variant not in gnomAD42 overlapping SVs

1 paper

chr1:241548834 C>A

NM_003679.5

p.G20G

c.60C>A

FAD_binding_3

Exome: 0.0% (AC=0, hom=0)Genome: n/a42 overlapping SVs

1 paper

chr1:241548836 C>T

NM_003679.5

p.S21L

c.62C>T

FAD_binding_3

Exome: 0.0% (AC=31, hom=0)Genome: n/a42 overlapping SVs

1 paper

chr1:241548844 G>A

NM_003679.5

p.A24T

c.70G>A

FAD_binding_3

Exome: 0.0% (AC=1, hom=0)Genome: n/a42 overlapping SVs

1 paper

chr1:241548845 C>T

NM_003679.5

p.A24V

c.71C>T

FAD_binding_3

exact variant not in gnomAD42 overlapping SVs

1 paper

chr1:241548853 C>T

NM_003679.5

p.L27F

c.79C>T

FAD_binding_3

Exome: 0.0% (AC=1, hom=0)Genome: n/a42 overlapping SVs

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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."