Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.G146Splc

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
9 papers
NM_000320.3
p.G146Splc
c.437-1G>A
Surrounding Variants
1 paper
NM_000320.3
p.G146Splc
c.437-5C>G
6 papers
NM_000320.3
p.G149R
c.445G>C
6 papers
NM_000320.3
p.G149R
c.445G>A
20 papers
NM_000320.3
p.Y150C
c.449A>G
4 papers
NM_000320.3
p.G151R
c.451G>C
9 papers
NM_000320.3
p.G151S
c.451G>A
1 paper
NM_000320.3
p.G151D
c.452G>A
2 papers
NM_000320.3
p.A153V
c.458C>T
1 paper
NM_000320.3
p.A156P
c.466G>C
4 papers
NM_000320.3
p.A156T
c.466G>A
2 papers
NM_000320.3
p.V157G
c.470T>G
10 papers
NM_000320.3
p.H158Y
c.472C>T
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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."