Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.K109I

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
1 paper
NM_003124.5
p.K109I
c.326A>T
Surrounding Variants
1 paper
NM_003124.5
p.K109R
c.326A>G
1 paper
NM_003124.5
p.G110S
c.328G>A
1 paper
NM_003124.5
p.V112A
c.335T>C
1 paper
NM_003124.5
p.D113G
c.338A>G
1 paper
NM_003124.5
p.L104P
c.311T>C
1 paper
NM_003124.5
p.S115G
c.343A>G
1 paper
NM_003124.5
p.S103Y
c.308C>A
1 paper
NM_003124.5
p.S103C
c.308C>G
1 paper
NM_003124.5
p.G102G
c.306C>G
2 papers
NM_003124.5
p.D116G
c.347A>G
2 papers
NM_003124.5
p.G102Splc
c.305-2A>G
1 paper
NM_003124.5
p.S117insFs
c.349_350insC
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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."