Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.R221Q

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.R221Q
c.662G>A
Surrounding Variants
29 papers
NM_000320.3
p.R221*
c.661C>T
2 papers
NM_000320.3
p.P222L
c.665C>T
3 papers
NM_000320.3
p.G218ins3
c.653_654ins9
1 paper
NM_000320.3
p.G218V
c.653G>T
1 paper
NM_000320.3
p.G218W
c.652G>T
1 paper
NM_000320.3
p.G225R
c.673G>C
3 papers
NM_000320.3
p.G225R
c.673G>A
2 papers
NM_000320.3
p.T217delFs
c.649delT
1 paper
NM_000320.3
p.W215C
c.645G>T
1 paper
NM_000320.3
p.W215*
c.645G>A
1 paper
NM_000320.3
p.W215*
c.644G>A
2 papers
NM_000320.3
p.W215R
c.643T>C
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."