Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.T129A

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.T129A
c.385A>G
Surrounding Variants
4 papers
NM_003124.5
p.N127K
c.381C>A
6 papers
NM_003124.5
p.N127K
c.381C>G
1 paper
NM_003124.5
p.N127I
c.380A>T
1 paper
NM_003124.5
p.C133Y
c.398G>A
2 papers
NM_003124.5
p.W124R
c.370T>A
4 papers
NM_003124.5
p.W124R
c.370T>C
1 paper
NM_003124.5
p.Y123*
c.369C>A
3 papers
NM_003124.5
p.Y123*
c.369C>G
2 papers
NM_003124.5
p.Y123C
c.368A>G
1 paper
NM_003124.5
p.N122D
c.364A>G
3 papers
NM_003124.5
p.S136F
c.407C>T
2 papers
NM_003124.5
p.V138D
c.413T>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."