Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.G18fs

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.G18fs
c.52_53fs
Surrounding Variants
3 papers
NM_000320.3
p.G18C
c.52G>T
1 paper
NM_000320.3
p.G18V
c.53G>T
1 paper
NM_000320.3
p.G18A
c.53G>C
8 papers
NM_000320.3
p.G18D
c.53G>A
1 paper
NM_000320.3
p.G17G
c.51C>G
5 papers
NM_000320.3
p.G17V
c.50G>T
1 paper
NM_000320.3
p.G18delFs
c.53delC
3 papers
NM_000320.3
p.G17C
c.49G>T
7 papers
NM_000320.3
p.G17R
c.49G>C
1 paper
NM_000320.3
p.G17S
c.49G>A
3 papers
NM_000320.3
p.Y16*
c.48C>G
1 paper
NM_000320.3
p.Y16*
c.48C>A
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."