Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.N94I

QDPR

229 papers

RefSeq Summary

This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aroma...

Pfam Domains

adh_shortaa 11–198UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

quinoid dihydropteridine reductase

HGNC Alias Symbols

DHPR; PKU2; SDR33C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000320.3
p.N94I
c.281A>T
Surrounding Variants
1 paper
NM_000320.3
p.G93A
c.278G>C
2 papers
NM_000320.3
p.G92A
c.275G>C
1 paper
NM_000320.3
p.G92R
c.274G>C
1 paper
NM_000320.3
p.G92R
c.274G>A
1 paper
NM_000320.3
p.S97C
c.290C>G
1 paper
NM_000320.3
p.K96_S97delFs
c.286_289del4
1 paper
NM_000320.3
p.S97fs
c.289_290fs
9 papers
NM_000320.3
p.W90*
c.270G>A
1 paper
NM_000320.3
p.K98fs
c.292_293fs
5 papers
NM_000320.3
p.S97delFs
c.291delG
1 paper
NM_000320.3
p.W90S
c.269G>C
7 papers
NM_000320.3
p.W90*
c.269G>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."