Varaico: Literature-Extracted Genetic Variants

Gene:NQO1
Variant:p.K240Q

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
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000903.3
p.K240Q
c.718A>C
Surrounding Variants
5 papers
NM_000903.3
p.K240E
c.718A>G
1 paper
NM_000903.3
p.K240I
c.719A>T
2 papers
NM_000903.3
p.K240R
c.719A>G
2 papers
NM_000903.3
p.K240T
c.719A>C
1 paper
NM_000903.3
p.M239R
c.716T>G
1 paper
NM_000903.3
p.E242fs
c.724_725fs
1 paper
NM_001025433.2
p.F203F
c.609C>T
1 paper
NM_000903.3
p.V243L
c.727G>T
1 paper
NM_000903.3
p.V243L
c.727G>C
1 paper
NM_000903.3
p.G236*
c.706G>T
1 paper
NM_000903.3
p.D245H
c.733G>C
1 paper
NM_000903.3
p.A235T
c.703G>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."