Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.Q119*

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.Q119*
c.355C>T
Surrounding Variants
1 paper
NM_003124.5
p.Q119E
c.355C>G
1 paper
NM_003124.5
p.T118_Q119delins
c.354_355delinsCT
1 paper
NM_003124.5
p.T118N
c.353C>A
1 paper
NM_003124.5
p.S117insFs
c.349_350insC
2 papers
NM_003124.5
p.D116G
c.347A>G
1 paper
NM_003124.5
p.N122D
c.364A>G
1 paper
NM_003124.5
p.S115G
c.343A>G
2 papers
NM_003124.5
p.Y123C
c.368A>G
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.W124R
c.370T>A
4 papers
NM_003124.5
p.W124R
c.370T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."