Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.C171Y

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
Selected Variant
4 papers
NM_003124.5
p.C171Y
c.512G>A
Surrounding Variants
1 paper
NM_003124.5
p.Y170F
c.509A>T
1 paper
NM_003124.5
p.L169_C171del3
c.505_512del9
4 papers
NM_003124.5
p.A175D
c.524C>A
3 papers
NM_003124.5
p.A176V
c.527C>T
1 paper
NM_003124.5
p.R177C
c.529C>T
1 paper
NM_003124.5
p.R177H
c.530G>A
1 paper
NM_003124.5
p.R177P
c.530G>C
1 paper
NM_003124.5
p.D178N
c.532G>A
7 papers
NM_003124.5
p.P163L
c.488C>T
1 paper
NM_003124.5
p.L158I
c.472C>A
1 paper
NM_003124.5
p.A185_E187Fs
c.554_559delinsTGTGFs
1 paper
NM_003124.5
p.L186L
c.556C>T
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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."