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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NQO2

Variant:p.G34S

NQO2

66 papers

RefSeq Summary

This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihy...

Pfam Domains

Flavodoxin_2aa 4–212UCSCFlavodoxin-like fold

Gene Aliases

HGNC Name

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

HGNC Previous Symbol

NMOR2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:3010117 G>A

NM_000904.6

p.G34S

c.100G>A

Flavodoxin_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

Surrounding Variants

1 paper

chr6:3010109 G>C

NM_000904.6

p.S31T

c.92G>C

Flavodoxin_2

exact variant not in gnomAD11 overlapping SVs

3 papers

chr6:3010126 G>A

NM_000904.6

p.V37I

c.109G>A

Flavodoxin_2

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=4, hom=0)11 overlapping SVs

4 papers

chr6:3010103 A>G

NM_000904.6

p.E29G

c.86A>G

Flavodoxin_2

Exome: 1.6% (AC=23187, hom=401)Genome: 1.3% (AC=2028, hom=31)11 overlapping SVs

1 paper

chr6:3010138 G>C

NM_000904.6

p.D41H

c.121G>C

Flavodoxin_2

exact variant not in gnomAD11 overlapping SVs

1 paper

chr6:3010156 C>G

NM_000904.6

p.L47V

c.139C>G

Flavodoxin_2

exact variant not in gnomAD11 overlapping SVs

7 papers

chr6:3010156 C>T

NM_000904.6

p.L47F

c.139C>T

Flavodoxin_2

Exome: 79.1% (AC=1154845, hom=458677)Genome: 83.4% (AC=126733, hom=53360)11 overlapping SVs

2 papers

chr6:3010075 G>A

NM_000904.6

p.G20R

c.58G>A

Flavodoxin_2

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=10, hom=0)11 overlapping SVs

1 paper

chr6:3010075 G>C

NM_000904.6

p.G20R

c.58G>C

Flavodoxin_2

Exome: n/aGenome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr6:3010160 A>C

NM_000904.6

p.E48A

c.143A>C

Flavodoxin_2

exact variant not in gnomAD11 overlapping SVs

1 paper

chr6:3010164 G>A

NM_000904.6

p.P49P

c.147G>A

Flavodoxin_2

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=5, hom=0)11 overlapping SVs

1 paper

chr6:3010165 A>G

NM_000904.6

p.R50G

c.148A>G

Flavodoxin_2

exact variant not in gnomAD11 overlapping SVs

3 papers

chr6:3010064 A>G

NM_000904.6

p.K16R

c.47A>G

Flavodoxin_2

Exome: 3.2% (AC=46491, hom=817)Genome: 3.7% (AC=5674, hom=119)11 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."