Varaico: Literature-Extracted Genetic Variants

Gene:SPR

SPR

284 papers

RefSeq Summary

This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene...

Pfam Domains

adh_shortaa 8–214UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

sepiapterin reductase

HGNC Alias Symbol

SDR38C1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 189 variants
26 papers
NM_003124.5
p.R150G
c.448A>G
19 papers
NM_003124.5
p.K251*
c.751A>T
12 papers
NM_003124.5
p.P87S
c.259C>T
12 papers
NM_003124.5
p.R219*
c.655C>T
9 papers
NM_003124.5
p.Q119*
c.355C>T
9 papers
NM_003124.5
p.G199Splc
c.596-2A>G
7 papers
NM_003124.5
p.G102C
c.304G>T
7 papers
NM_003124.5
p.P163L
c.488C>T
6 papers
NM_003124.5
p.N127K
c.381C>G
5 papers
NM_003124.5
p.D69E
c.207C>G
4 papers
NM_003124.5
p.M1V
c.1A>G
4 papers
NM_003124.5
p.V38I
c.112G>A
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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."