Varaico: Literature-Extracted Genetic Variants

Gene:QDPR

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
1–12 of 259 variants
29 papers
NM_000320.3
p.R221*
c.661C>T
22 papers
NM_000320.3
p.G23D
c.68G>A
20 papers
NM_000320.3
p.Y150C
c.449A>G
14 papers
NM_000320.3
p.L14P
c.41T>C
10 papers
NM_000320.3
p.W36R
c.106T>C
10 papers
NM_000320.3
p.H158Y
c.472C>T
10 papers
NM_000320.3
p.P172L
c.515C>T
9 papers
NM_000320.3
p.W90*
c.270G>A
9 papers
NM_000320.3
p.G146Splc
c.437-1G>A
9 papers
NM_000320.3
p.G151S
c.451G>A
9 papers
NM_000320.3
p.F212C
c.635T>G
8 papers
NM_000320.3
p.G18D
c.53G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."