Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.R31R

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.R31R
c.93G>A
Surrounding Variants
1 paper
NM_000320.3
p.R31P
c.92G>C
2 papers
NM_000320.3
p.R31Q
c.92G>A
2 papers
NM_000320.3
p.R31W
c.91C>T
4 papers
NM_000320.3
p.A32A
c.96C>T
1 paper
NM_000320.3
p.W35G
c.103T>G
1 paper
NM_000320.3
p.W35insFs
c.104_105insCG
1 paper
NM_000320.3
p.W35*
c.104G>A
1 paper
NM_000320.3
p.Q28fs
c.82_83fs
1 paper
NM_000320.3
p.V27insFs
c.81dupG
1 paper
NM_000320.3
p.W35C
c.105G>T
1 paper
NM_000320.3
p.W35fs
c.103_104fs
1 paper
NM_000320.3
p.W35C
c.105G>C
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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."