Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.S169_M171del3

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.S169_M171del3
c.505_512del9
Surrounding Variants
1 paper
NM_000320.3
p.P172S
c.514C>T
10 papers
NM_000320.3
p.P172L
c.515C>T
1 paper
NM_000320.3
p.P173S
c.517C>T
1 paper
NM_000320.3
p.G170G
c.510C>T
2 papers
NM_000320.3
p.G174R
c.520G>C
7 papers
NM_000320.3
p.G170S
c.508G>A
2 papers
NM_000320.3
p.G174R
c.520G>A
1 paper
NM_000320.3
p.A175T
c.523G>A
1 paper
NM_000320.3
p.A176A
c.528C>T
1 paper
NM_000320.3
p.A177T
c.529G>A
1 paper
NM_000320.3
p.K167fs
c.499_500fs
1 paper
NM_000320.3
p.G166delFs
c.498delC
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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."