Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.S39R

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
4 papers
NM_000320.3
p.S39R
c.117C>A
Surrounding Variants
4 papers
NM_000320.3
p.S39R
c.117C>G
1 paper
NM_000320.3
p.A38_S39del1
c.113_115delTGG
1 paper
NM_000320.3
p.S39_V40del1
c.116_118delCGC
1 paper
NM_000320.3
p.S39G
c.115A>G
4 papers
NM_000320.3
p.S39R
c.115A>C
1 paper
NM_000320.3
p.V40V
c.120T>G
1 paper
NM_000320.3
p.D41A
c.122A>C
10 papers
NM_000320.3
p.W36R
c.106T>C
8 papers
NM_000320.3
p.W36R
c.106T>A
1 paper
NM_000320.3
p.W35_W36Splc
c.106-1G>T
1 paper
NM_000320.3
p.V43V
c.129G>C
1 paper
NM_000320.3
p.W35_W36Splc
c.106-3C>G
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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."