Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.G199Splc

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
9 papers
NM_003124.5
p.G199Splc
c.596-2A>G
Surrounding Variants
3 papers
NM_003124.5
p.G199delFs
c.596delG
1 paper
NM_003124.5
p.G199V
c.596G>T
1 paper
NM_003124.5
p.G199fs
c.595_596fs
3 papers
NM_003124.5
p.P200delFs
c.599delC
1 paper
NM_003124.5
p.P200fs
c.598_599fs
1 paper
NM_003124.5
p.P200S
c.598C>T
1 paper
NM_003124.5
p.P200P
c.600T>A
1 paper
NM_003124.5
p.T203A
c.607A>G
1 paper
NM_003124.5
p.T203R
c.608C>G
2 papers
NM_003124.5
p.D204G
c.611A>G
1 paper
NM_003124.5
p.M205insFs
c.615dupG
1 paper
NM_003124.5
p.Q206fs
c.616_617fs
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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."