Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.P87L

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.P87L
c.260C>T
Surrounding Variants
12 papers
NM_003124.5
p.P87S
c.259C>T
3 papers
NM_003124.5
p.R88W
c.262C>T
1 paper
NM_003124.5
p.R88P
c.263G>C
1 paper
NM_003124.5
p.P89A
c.265C>G
1 paper
NM_003124.5
p.P89S
c.265C>T
1 paper
NM_003124.5
p.A82T
c.244G>A
1 paper
NM_003124.5
p.R94P
c.281G>C
1 paper
NM_003124.5
p.L79P
c.236T>C
1 paper
NM_003124.5
p.L79L
c.235C>T
1 paper
NM_003124.5
p.Q77H
c.231G>C
1 paper
NM_003124.5
p.Q77H
c.231G>T
1 paper
NM_003124.5
p.L97R
c.290T>G
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