Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.A7V

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.A7V
c.20C>T
Surrounding Variants
1 paper
NM_000320.3
p.A7T
c.19G>A
1 paper
NM_000320.3
p.A5del1
c.13_14delCGC
1 paper
NM_000320.3
p.E9K
c.25G>A
1 paper
NM_000320.3
p.A5A
c.15G>A
1 paper
NM_000320.3
p.A5T
c.13G>A
1 paper
NM_000320.3
p.A4T
c.10G>A
1 paper
NM_000320.3
p.R11C
c.31C>T
1 paper
NM_000320.3
p.A3T
c.7G>A
1 paper
NM_000320.3
p.A5_R11insFs
c.13_32dup20
1 paper
NM_000320.3
p.A2G
c.5C>G
1 paper
NM_000320.3
p.V13insFs
c.37_38insC
1 paper
NM_000320.3
p.M1Fs
c.3delinsACFs
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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."