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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NQO1

NQO1

705 papers

RefSeq Summary

This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. Thi...

Pfam Domains

Flavodoxin_2aa 4–214UCSCFlavodoxin-like fold

Gene Aliases

HGNC Name

NAD(P)H quinone dehydrogenase 1

HGNC Previous Symbols

NMOR1; DIA4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 526 variants

393 papers

chr16:69711242 G>A

NM_000903.3

p.P187S

c.559C>T

Flavodoxin_2

Exome: 20.6% (AC=300203, hom=33933)Genome: 21.7% (AC=32929, hom=3888)12 overlapping SVs

51 papers

chr16:69714966 G>A

NM_000903.3

p.R139W

c.415C>T

Flavodoxin_2

Exome: 3.9% (AC=57403, hom=1372)Genome: 2.6% (AC=3964, hom=73)12 overlapping SVs

8 papers

chr16:69718187 T>C

NM_000903.3

p.H80R

c.239A>G

Flavodoxin_2

Exome: 0.0% (AC=4, hom=0)Genome: n/a12 overlapping SVs

6 papers

chr16:69711062 C>G

NM_000903.3

p.E247Q

c.739G>C

Exome: 0.0% (AC=10, hom=0)Genome: n/a12 overlapping SVs

5 papers

chr16:69718522 A>G

NM_000903.3

p.L7P

c.20T>C

Flavodoxin_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a12 overlapping SVs

5 papers

chr16:69718470 C>T

NM_000903.3

p.E24E

c.72G>A

Flavodoxin_2

Exome: 7.1% (AC=103772, hom=4083)Genome: 6.2% (AC=9515, hom=330)12 overlapping SVs

5 papers

chr16:69711083 T>C

NM_000903.3

p.K240E

c.718A>G

exact variant not in gnomAD12 overlapping SVs

4 papers

chr16:69718462 G>A

NM_000903.3

p.A27V

c.80C>T

Flavodoxin_2

exact variant not in gnomAD12 overlapping SVs

4 papers

chr16:69718459 G>T

NM_000903.3

p.A28E

c.83C>A

Flavodoxin_2

Exome: 0.0% (AC=2, hom=0)Genome: n/a12 overlapping SVs

4 papers

chr16:69718449 C>T

NM_000903.3

p.K31K

c.93G>A

Flavodoxin_2

exact variant not in gnomAD12 overlapping SVs

4 papers

chr16:69715061 A>C

NM_000903.3

p.F107C

c.320T>G

Flavodoxin_2

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=9, hom=0)12 overlapping SVs

4 papers

chr16:69714965 C>T

NM_000903.3

p.R139Q

c.416G>A

Flavodoxin_2

Exome: 0.0% (AC=103, hom=1)Genome: 0.0% (AC=12, hom=0)12 overlapping SVs

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