Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.L239fs

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.L239fs
c.715_716fs
Surrounding Variants
1 paper
NM_000320.3
p.E238insFs
c.714dupA
5 papers
NM_000320.3
p.T237M
c.710C>T
7 papers
NM_000320.3
p.P241S
c.721C>T
1 paper
NM_000320.3
p.G235R
c.703G>C
1 paper
NM_000320.3
p.G235R
c.703G>A
2 papers
NM_000320.3
p.Y243_F244insFs
c.729_730insTT
2 papers
NM_000320.3
p.*245*
c.735G>A
1 paper
NM_000320.3
p.V230M
c.688G>A
1 paper
NM_000320.3
p.Q229insFs
c.686_687insA
2 papers
NM_000320.3
p.Q229*
c.685C>T
1 paper
NM_000320.3
p.G225R
c.673G>C
3 papers
NM_000320.3
p.G225R
c.673G>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."