Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.S163N

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
3 papers
NM_000320.3
p.S163N
c.488G>A
Surrounding Variants
2 papers
NM_000320.3
p.S163I
c.488G>T
2 papers
NM_000320.3
p.S163T
c.488G>C
1 paper
NM_000320.3
p.Q162R
c.485A>G
1 paper
NM_000320.3
p.Q162*
c.484C>T
1 paper
NM_000320.3
p.C161F
c.482G>T
1 paper
NM_000320.3
p.C161Y
c.482G>A
1 paper
NM_000320.3
p.A165D
c.494C>A
1 paper
NM_000320.3
p.L160F
c.478C>T
1 paper
NM_000320.3
p.K167fs
c.499_500fs
1 paper
NM_000320.3
p.G166delFs
c.498delC
1 paper
NM_000320.3
p.Q159*
c.475C>T
2 papers
NM_000320.3
p.H158delFs
c.472delG
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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."